Variant report

Variant	nsv887874
Chromosome Location	chr7:27136308-27196069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3137)
CpG islands
(count:16490)
Chromatin interactive
region (count:125)
LncRNA
region (count:72)
Mature miRNA
region (count: 0)
miRNA target
sites (count:22)

(count:3137 , 50 per page) page: 1 2 3 4 5 6 7 ... 63

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27160649-27161423	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27188911-27189021	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:27190363-27190815	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:27169747-27169948	HepG2	liver:	n/a	n/a
5	ARID3A	chr7:27161896-27162399	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:27183159-27183652	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:27171211-27171232	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:27170387-27170832	HepG2	liver:	n/a	n/a
9	ARID3A	chr7:27175249-27176352	HepG2	liver:	n/a	chr7:27176106-27176122
10	ARID3A	chr7:27139091-27139370	HepG2	liver:	n/a	n/a
11	ARID3A	chr7:27173264-27173893	HepG2	liver:	n/a	n/a
12	ATF1	chr7:27176092-27176357	K562	blood:	n/a	n/a
13	ATF1	chr7:27175464-27175813	K562	blood:	n/a	n/a
14	ATF2	chr7:27173946-27174397	GM12878	blood:	n/a	n/a
15	ATF2	chr7:27173974-27174382	GM12878	blood:	n/a	n/a
16	ATF2	chr7:27190397-27190797	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF3	chr7:27170360-27170771	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
18	ATF3	chr7:27196054-27196432	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr7:27170457-27170634	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
20	ATF3	chr7:27154672-27155277	A549	lung:	n/a	n/a
21	ATF3	chr7:27170368-27170749	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
22	ATF3	chr7:27195983-27196444	H1-hESC	embryonic stem cell:	n/a	n/a
23	ATF3	chr7:27170463-27170795	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
24	ATF3	chr7:27170448-27170879	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
25	ATF3	chr7:27170355-27170818	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
26	ATF3	chr7:27175370-27176398	A549	lung:	n/a	n/a
27	BACH1	chr7:27160610-27160638	K562	blood:	n/a	n/a
28	BACH1	chr7:27146489-27146504	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr7:27182754-27182923	H1-hESC	embryonic stem cell:	n/a	n/a
30	BACH1	chr7:27170493-27170903	H1-hESC	embryonic stem cell:	n/a	n/a
31	BACH1	chr7:27179003-27179135	H1-hESC	embryonic stem cell:	n/a	n/a
32	BACH1	chr7:27162144-27162323	H1-hESC	embryonic stem cell:	n/a	n/a
33	BACH1	chr7:27136144-27136879	H1-hESC	embryonic stem cell:	n/a	n/a
34	BATF	chr7:27174043-27174335	GM12878	blood:	n/a	chr7:27174182-27174193
35	BATF	chr7:27139432-27139694	GM12878	blood:	n/a	chr7:27139578-27139589
36	BATF	chr7:27139418-27139661	GM12878	blood:	n/a	chr7:27139578-27139589
37	BATF	chr7:27174042-27174424	GM12878	blood:	n/a	chr7:27174182-27174193
38	BCL11A	chr7:27174091-27174316	GM12878	blood:	n/a	n/a
39	BCL3	chr7:27174044-27174332	GM12878	blood:	n/a	n/a
40	BCL3	chr7:27150152-27150424	GM12878	blood:	n/a	n/a
41	BCL3	chr7:27183034-27183631	A549	lung:	n/a	n/a
42	BCL3	chr7:27151044-27151749	A549	lung:	n/a	n/a
43	BCL3	chr7:27182969-27183466	A549	lung:	n/a	n/a
44	BCL3	chr7:27154747-27155495	A549	lung:	n/a	n/a
45	BCL3	chr7:27152827-27153458	A549	lung:	n/a	n/a
46	BCL3	chr7:27175356-27176364	A549	lung:	n/a	n/a
47	BCL3	chr7:27154570-27155299	A549	lung:	n/a	n/a
48	BCL3	chr7:27150153-27150988	A549	lung:	n/a	chr7:27150501-27150514
49	BCL3	chr7:27149965-27150409	GM12878	blood:	n/a	n/a
50	BCL3	chr7:27175412-27176007	A549	lung:	n/a	n/a

(count:16490 , 50 per page) page: 1 2 3 4 5 6 7 ... 330

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27192056-27192106	HEK293	kidney:	embryo
2	chr7:27163820-27163870	Hepatocyte	liver:	n/a
3	chr7:27179432-27179482	HepG2	liver:	n/a
4	chr7:27178861-27178911	NT2-D1	testis:	n/a
5	chr7:27184077-27184127	SKMC	muscle:	n/a
6	chr7:27192056-27192106	BE2_C	brain:	n/a
7	chr7:27187553-27187603	ProgFib	skin:	n/a
8	chr7:27143334-27143384	HRCEpiC	kidney:	n/a
9	chr7:27179432-27179482	SKMC	muscle:	n/a
10	chr7:27184065-27184115	A549	lung:	n/a
11	chr7:27141139-27141189	PFSK-1	brain:	n/a
12	chr7:27181418-27181468	HRCEpiC	kidney:	n/a
13	chr7:27142204-27142254	SAEC	small airway:	n/a
14	chr7:27136424-27136474	AoSMC	blood vessel:	n/a
15	chr7:27184059-27184109	GM12878	blood:	n/a
16	chr7:27188465-27188515	SK-N-MC	brain:	n/a
17	chr7:27155974-27156024	H1-hESC	embryonic stem cell:	embryo
18	chr7:27193351-27193401	SAEC	small airway:	n/a
19	chr7:27160674-27160724	MCF10A-Er-Src	breast:	n/a
20	chr7:27191564-27191614	HRPEpiC	eye:	n/a
21	chr7:27192056-27192106	HEK293	kidney:	embryo
22	chr7:27163820-27163870	Hepatocyte	liver:	n/a
23	chr7:27179432-27179482	HepG2	liver:	n/a
24	chr7:27178861-27178911	NT2-D1	testis:	n/a
25	chr7:27184077-27184127	SKMC	muscle:	n/a
26	chr7:27192056-27192106	BE2_C	brain:	n/a
27	chr7:27187553-27187603	ProgFib	skin:	n/a
28	chr7:27143334-27143384	HRCEpiC	kidney:	n/a
29	chr7:27179432-27179482	SKMC	muscle:	n/a
30	chr7:27184065-27184115	A549	lung:	n/a
31	chr7:27141139-27141189	PFSK-1	brain:	n/a
32	chr7:27181418-27181468	HRCEpiC	kidney:	n/a
33	chr7:27142204-27142254	SAEC	small airway:	n/a
34	chr7:27136424-27136474	AoSMC	blood vessel:	n/a
35	chr7:27184059-27184109	GM12878	blood:	n/a
36	chr7:27188465-27188515	SK-N-MC	brain:	n/a
37	chr7:27155974-27156024	H1-hESC	embryonic stem cell:	embryo
38	chr7:27193351-27193401	SAEC	small airway:	n/a
39	chr7:27160674-27160724	MCF10A-Er-Src	breast:	n/a
40	chr7:27191564-27191614	HRPEpiC	eye:	n/a
41	chr7:27163820-27163870	HL-60	blood:	n/a
42	chr7:27145972-27146022	HRPEpiC	eye:	n/a
43	chr7:27190689-27190739	RPTEC	kidney:	n/a
44	chr7:27161749-27161799	MCF-7	breast:	n/a
45	chr7:27148204-27148254	ProgFib	skin:	n/a
46	chr7:27194731-27194781	HEK293	kidney:	embryo
47	chr7:27143806-27143856	U87	brain:	n/a
48	chr7:27138751-27138801	HMEC	breast:	n/a
49	chr7:27154537-27154587	GM12878	blood:	n/a
50	chr7:27143370-27143420	SAEC	small airway:	n/a

(count:125 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:99257811..99258591-chr7:27170109..27170609,2	NB4	blood:
2	7:27082525-27089724..7:27176959-27181770	Hela-S3	cervix:
3	7:27162022-27164727..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
4	chr7:27150209..27152562-chr7:27153238..27155636,2	K562	blood:
5	chr7:27175229..27177750-chr7:27182506..27185033,2	MCF-7	breast:
6	7:27137201-27143270..7:27156413-27158219	H1-hESC	embryonic stem cell:	embryo
7	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
8	chr7:27134844..27136914-chr7:27174495..27176327,2	MCF-7	breast:
9	chr7:27178227..27179948-chr7:27181213..27183390,2	MCF-7	breast:
10	7:27137201-27143270..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
11	7:27162022-27164727..7:27176959-27181770	H1-hESC	embryonic stem cell:	embryo
12	chr7:27181736..27184705-chr7:27188724..27191664,4	MCF-7	breast:
13	chr7:27154930..27155509-chr7:27182224..27183181,2	Hela-S3	cervix:
14	chr7:26899915..26900635-chr7:27175507..27176745,4	MCF-7	breast:
15	7:27173201-27176959..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
16	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
17	chr7:27177506..27180077-chr7:27186748..27189037,2	MCF-7	breast:
18	7:27165488-27167947..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
19	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
20	7:27082525-27089724..7:27165488-27167947	Hela-S3	cervix:
21	chr7:27136545..27139680-chr7:27140711..27142949,3	K562	blood:
22	7:27162022-27164727..7:27165488-27167947	H1-hESC	embryonic stem cell:	embryo
23	chr7:26892970..26895905-chr7:27178722..27180314,2	MCF-7	breast:
24	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
25	chr7:27164893..27167743-chr7:27169622..27171494,2	K562	blood:
26	chr7:27176885..27178847-chr7:27180948..27184346,3	K562	blood:
27	chr7:27181480..27183219-chr7:27189259..27191878,2	MCF-7	breast:
28	chr7:26899720..26900649-chr7:27175363..27176615,9	MCF-7	breast:
29	chr12:53273583..53274199-chr7:27137731..27138330,2	MCF-7	breast:
30	7:27156413-27158219..7:27165488-27167947	H1-hESC	embryonic stem cell:	embryo
31	chr7:27169441..27172151-chr7:27190133..27191991,3	MCF-7	breast:
32	chr7:27136545..27139680-chr7:27140711..27142949,3	K562	blood:
33	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
34	chr7:27176401..27178574-chr7:27179994..27182011,2	K562	blood:
35	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
36	7:27162022-27164727..7:27165488-27167947	H1-hESC	embryonic stem cell:	embryo
37	7:27173201-27176959..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
38	chr7:26902820..26904709-chr7:27149740..27152341,2	MCF-7	breast:
39	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
40	7:27158219-27162022..7:27173201-27176959	H1-hESC	embryonic stem cell:	embryo
41	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
42	7:27143270-27156413..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
43	chr7:27147212..27149941-chr7:27151391..27153594,2	K562	blood:
44	chr7:27134944..27136463-chr7:27148714..27151131,2	MCF-7	breast:
45	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
46	chr7:26894678..26896550-chr7:27170054..27174548,4	MCF-7	breast:
47	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
48	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
49	chr7:26893107..26894049-chr7:27175583..27176696,5	MCF-7	breast:
50	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo

(count:72 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-10	chr7:27161536-27161645	ENSG00000253552
2	lnc-HOXA4-1	chr7:27150310-27150379	NONHSAT119671
3	lnc-EVX1-8	chr7:27191194-27191300	ENSG00000254369
4	lnc-EVX1-10	chr7:27154967-27155962	ENSG00000253552
5	lnc-EVX1-13	chr7:27139398-27139758	ENSG00000233429.4
6	lnc-EVX1-13	chr7:27139398-27139758	ENSG00000233429.4
7	lnc-EVX1-8	chr7:27187102-27187205	ENSG00000254369
8	lnc-EVX1-10	chr7:27162086-27162285	ENSG00000253552
9	lnc-HOXA4-1	chr7:27166547-27166689	NONHSAT119681
10	lnc-EVX1-10	chr7:27155655-27156283	ENSG00000253552.3
11	lnc-EVX1-10	chr7:27163950-27164229	ENSG00000253552
12	lnc-HOXA4-1	chr7:27179702-27179844	NONHSAT119671
13	lnc-HOXA4-1	chr7:27191907-27192217	ENSG00000272801.1
14	lnc-HOXA4-1	chr7:27164053-27164168	NONHSAT119671
15	lnc-EVX1-13	chr7:27138717-27138985	ENSG00000233429.4
16	lnc-EVX1-10	chr7:27162167-27162285	ENSG00000253552
17	lnc-EVX1-10	chr7:27153555-27153612	ENSG00000253552
18	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
19	lnc-EVX1-13	chr7:27138717-27138985	ENSG00000233429.4
20	lnc-EVX1-10	chr7:27161538-27161792	ENSG00000253552
21	lnc-EVX1-10	chr7:27161538-27162495	NONHSAT119670
22	lnc-EVX1-10	chr7:27148816-27148882	NONHSAT119670
23	lnc-EVX1-8	chr7:27179983-27180158	ENSG00000254369
24	lnc-HOXA7-1	chr7:27192717-27192967	NONHSAT119689
25	lnc-EVX1-13	chr7:27139398-27139877	NONHSAT119665
26	lnc-EVX1-10	chr7:27161538-27161792	ENSG00000253552
27	lnc-EVX1-10	chr7:27161538-27162269	ENSG00000253552
28	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
29	lnc-EVX1-8	chr7:27191194-27191300	ENSG00000254369
30	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
31	lnc-EVX1-10	chr7:27173700-27173921	ENSG00000253552
32	lnc-EVX1-10	chr7:27162062-27162285	ENSG00000253552
33	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
34	lnc-EVX1-10	chr7:27167819-27168312	ENSG00000253552
35	lnc-EVX1-10	chr7:27160556-27160812	ENSG00000253552
36	lnc-EVX1-10	chr7:27167819-27168379	ENSG00000253552
37	lnc-EVX1-10	chr7:27163079-27163257	ENSG00000253552
38	lnc-EVX1-13	chr7:27139238-27139884	ENSG00000233429.5
39	lnc-EVX1-8	chr7:27169596-27169767	ENSG00000254369
40	lnc-EVX1-13	chr7:27138458-27138985	ENSG00000233429.4
41	lnc-EVX1-10	chr7:27163079-27163257	ENSG00000253552
42	lnc-EVX1-10	chr7:27161538-27161818	ENSG00000253552
43	lnc-EVX1-13	chr7:27138458-27138985	ENSG00000233429.4
44	lnc-EVX1-10	chr7:27155024-27155190	ENSG00000253552
45	lnc-EVX1-13	chr7:27138693-27138985	ENSG00000233429.4
46	lnc-EVX1-8	chr7:27191913-27192195	ENSG00000254369
47	lnc-EVX1-8	chr7:27191194-27191300	ENSG00000254369
48	lnc-EVX1-10	chr7:27163079-27164229	ENSG00000253552
49	lnc-EVX1-13	chr7:27139238-27139884	ENSG00000233429.5
50	lnc-EVX1-8	chr7:27189671-27191300	ENSG00000254369

No data

(count:22 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HOXA5	hsa-miR-196a-5p	chr7:27181012-27181005
2	HOXA5	hsa-miR-130a-3p	chr7:27181097-27181091
3	HOXA5	hsa-miR-183-5p	chr7:27181297-27181318
4	HOXA7	hsa-miR-196a-5p	chr7:27194067-27194095
5	HOXA5	hsa-miR-340-5p	chr7:27181203-27181224
6	HOXA5	hsa-miR-19a-3p	chr7:27180870-27180864
7	HOXA7	hsa-miR-196a-5p	chr7:27194073-27194066
8	HOXA5	hsa-miR-130b-3p	chr7:27181097-27181091
9	HOXA5	hsa-miR-130b-3p	chr7:27181091-27181114
10	HOXA3	hsa-miR-16-5p	chr7:27146679-27146673
11	HOXA7	hsa-miR-196a-5p	chr7:27194049-27194070
12	HOXA5	hsa-miR-19b-3p	chr7:27180870-27180864
13	HOXA7	hsa-miR-196a-5p	chr7:27194188-27194181
14	HOXA7	hsa-miR-196a-5p	chr7:27194225-27194218
15	HOXA7	hsa-miR-196a-5p	chr7:27194182-27194203
16	HOXA3	hsa-miR-10a-5p	chr7:27147233-27147226
17	HOXA3	hsa-miR-16-5p	chr7:27146673-27146694
18	HOXA5	hsa-miR-196a-5p	chr7:27181006-27181027
19	HOXA7	hsa-miR-196a-5p	chr7:27194219-27194240
20	HOXA5	hsa-miR-130a-3p	chr7:27181091-27181114
21	HOXA7	hsa-miR-196a-5p	chr7:27194055-27194048
22	HOXA3	hsa-miR-10a-5p	chr7:27147227-27147252

Variant related genes	Relation type
HOXA7	TF binding region
ENSG00000270182	TF binding region
ENSG00000273433	TF binding region
HOXA6	TF binding region
HOXA-AS2	TF binding region
ENSG00000272801	TF binding region
HOXA5	TF binding region
HOXA1	TF binding region
HOTAIRM1	TF binding region
HOXA-AS3	TF binding region
HOXA3	TF binding region
HOXA4	TF binding region
HOXA2	TF binding region
HOXA7	CpG island
ENSG00000270182	CpG island
ENSG00000273433	CpG island
HOXA6	CpG island
HOXA-AS2	CpG island
ENSG00000272801	CpG island
HOXA5	CpG island
HOXA1	CpG island
HOTAIRM1	CpG island
HOXA-AS3	CpG island
HOXA3	CpG island
HOXA4	CpG island
HOXA2	CpG island
ENSG00000106006	chromatin interactions
ENSG00000105996	chromatin interactions
ENSG00000254369	chromatin interactions
ENSG00000105997	chromatin interactions
ENSG00000243766	chromatin interactions
ENSG00000106031	chromatin interactions
ENSG00000168175	chromatin interactions
ENSG00000213786	chromatin interactions
ENSG00000253508	chromatin interactions
ENSG00000106004	chromatin interactions
ENSG00000005020	chromatin interactions
ENSG00000105991	chromatin interactions
ENSG00000176623	chromatin interactions
ENSG00000078399	chromatin interactions
ENSG00000207584	chromatin interactions
ENSG00000197576	chromatin interactions
ENSG00000233429	chromatin interactions
ENSG00000257184	chromatin interactions
ENSG00000226059	chromatin interactions
ENSG00000106038	chromatin interactions
ENSG00000273433	chromatin interactions
ENSG00000253405	chromatin interactions
ENSG00000272801	chromatin interactions
ENSG00000253187	chromatin interactions
ENSG00000253293	chromatin interactions
ENSG00000253552	chromatin interactions
ENSG00000218510	chromatin interactions
ENSG00000090520	chromatin interactions
ENSG00000085719	chromatin interactions
ENSG00000113838	chromatin interactions
ENSG00000155229	chromatin interactions
HOXA1	lncRNA
HOXA4	lncRNA
CCNL1	miRNA target sites
PTPN4	miRNA target sites
VAMP7	miRNA target sites
DYRK1A	miRNA target sites
DNMT3B	miRNA target sites
MAP3K7	miRNA target sites
CCND1	miRNA target sites
HMGB2	miRNA target sites
SYNE1	miRNA target sites
RNF34	miRNA target sites
GNA13	miRNA target sites
TGFBI	miRNA target sites
STAMBPL1	miRNA target sites
UNG	miRNA target sites
GPR63	miRNA target sites
SPAG1	miRNA target sites
NEK7	miRNA target sites
DICER1	miRNA target sites
FAM136A	miRNA target sites
MOBKL1A	miRNA target sites
KDM6B	miRNA target sites
ZNF606	miRNA target sites
RAPGEF4	miRNA target sites
LRRC40	miRNA target sites
TBC1D12	miRNA target sites
DIMT1L	miRNA target sites
GCC1	miRNA target sites
ANKRD57	miRNA target sites
MYCN	miRNA target sites
SLC31A1	miRNA target sites
NFIA	miRNA target sites

Extended variants
information (count: 2224 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:2224 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17449024	chr7:27136308-27136309	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
2	rs17500508	chr7:27136315-27136316	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs185017308	chr7:27136352-27136353	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
4	rs141393179	chr7:27136356-27136357	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
5	rs189477398	chr7:27136359-27136360	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
6	rs529534121	chr7:27136361-27136362	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
7	rs77370277	chr7:27136427-27136428	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
8	rs548865599	chr7:27136433-27136434	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
9	rs568976348	chr7:27136464-27136465	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
10	rs537542941	chr7:27136530-27136531	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
11	rs557766001	chr7:27136570-27136571	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
12	rs571249975	chr7:27136588-27136589	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
13	rs533732285	chr7:27136613-27136614	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
14	rs111909440	chr7:27136648-27136649	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
15	rs112637288	chr7:27136649-27136650	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
16	rs553721686	chr7:27136650-27136651	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
17	rs573528093	chr7:27136654-27136655	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
18	rs542416843	chr7:27136674-27136675	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
19	rs555670784	chr7:27136695-27136696	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs575739898	chr7:27136704-27136705	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs3807592	chr7:27136729-27136730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs192278738	chr7:27136731-27136732	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
23	rs79198317	chr7:27136808-27136809	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
24	rs540189600	chr7:27136839-27136840	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
25	rs560026032	chr7:27136871-27136872	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
26	rs529143458	chr7:27136923-27136924	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
27	rs184294231	chr7:27136938-27136939	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
28	rs562524449	chr7:27136986-27136987	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
29	rs17500523	chr7:27137020-27137021	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs17465316	chr7:27137029-27137030	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs188769670	chr7:27137050-27137051	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
32	rs533770332	chr7:27137125-27137126	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
33	rs547374503	chr7:27137130-27137131	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
34	rs567210514	chr7:27137165-27137166	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
35	rs535770054	chr7:27137183-27137184	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs555954382	chr7:27137225-27137226	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs541345895	chr7:27137248-27137249	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs181876576	chr7:27137267-27137268	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs561848360	chr7:27137353-27137354	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs374197998	chr7:27137365-27137366	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs538406871	chr7:27137457-27137458	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs149565443	chr7:27137492-27137493	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs565847631	chr7:27137503-27137504	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs144577210	chr7:27137514-27137515	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs534659720	chr7:27137588-27137589	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs139765640	chr7:27137590-27137591	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs142151478	chr7:27137623-27137624	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs560113178	chr7:27137663-27137664	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs17471387	chr7:27137714-27137715	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs370791375	chr7:27137730-27137731	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD
Breast cancer	18852474	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Tracheal agenesis	20877625	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:4555 , 50 per page) page: 1 2 3 4 5 6 7 ... 92

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27134400-27139000	Active TSS	HMEC	breast
6	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:27134600-27136800	Active TSS	A549	lung
8	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
10	chr7:27134600-27137400	Active TSS	NHEK	skin
11	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
12	chr7:27134800-27136800	Active TSS	HSMM	muscle
13	chr7:27134800-27136800	Active TSS	NHDF-Ad	bronchial
14	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
17	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:27135000-27136400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:27135000-27136400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr7:27135000-27136400	Active TSS	Ovary	ovary
21	chr7:27135000-27136800	Active TSS	Liver	Liver
22	chr7:27135000-27136800	Active TSS	Rectal Smooth Muscle	rectum
23	chr7:27135000-27136800	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:27135000-27139400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:27135200-27136400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr7:27135200-27136600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
27	chr7:27135200-27136600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:27135200-27136600	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:27135200-27136800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:27135200-27136800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr7:27135200-27136800	Active TSS	Colon Smooth Muscle	Colon
32	chr7:27135200-27136800	Active TSS	Fetal Kidney	kidney
33	chr7:27135200-27136800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
34	chr7:27135200-27136800	Active TSS	Psoas Muscle	Psoas
35	chr7:27135200-27136800	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:27135200-27136800	Active TSS	Spleen	Spleen
37	chr7:27135200-27136800	Active TSS	Hela-S3	cervix
38	chr7:27135200-27136800	Active TSS	Osteobl	bone
39	chr7:27135200-27137000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
40	chr7:27135200-27137000	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr7:27135200-27137400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:27135200-27137600	Active TSS	Gastric	stomach
43	chr7:27135200-27138600	Active TSS	NHLF	lung
44	chr7:27135200-27139000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr7:27135200-27139200	Active TSS	Aorta	Aorta
46	chr7:27135200-27139200	Active TSS	Right Atrium	heart
47	chr7:27135400-27136400	Bivalent/Poised TSS	Brain Substantia Nigra	brain
48	chr7:27135400-27136600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:27135400-27136600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
50	chr7:27135400-27136600	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle

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