Variant report

Variant	nsv606463
Chromosome Location	chr7:27135314-27182245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2299)
CpG islands
(count:10993)
Chromatin interactive
region (count:110)
LncRNA
region (count:69)
Mature miRNA
region (count: 0)
miRNA target
sites (count:14)

(count:2299 , 50 per page) page: 1 2 3 4 5 6 7 ... 46

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:27170387-27170832	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:27161896-27162399	HepG2	liver:	n/a	n/a
3	ARID3A	chr7:27160649-27161423	HepG2	liver:	n/a	n/a
4	ARID3A	chr7:27175249-27176352	HepG2	liver:	n/a	chr7:27176106-27176122
5	ARID3A	chr7:27139091-27139370	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:27169747-27169948	HepG2	liver:	n/a	n/a
7	ARID3A	chr7:27173264-27173893	HepG2	liver:	n/a	n/a
8	ARID3A	chr7:27171211-27171232	HepG2	liver:	n/a	n/a
9	ATF1	chr7:27175464-27175813	K562	blood:	n/a	n/a
10	ATF1	chr7:27176092-27176357	K562	blood:	n/a	n/a
11	ATF2	chr7:27173974-27174382	GM12878	blood:	n/a	n/a
12	ATF2	chr7:27173946-27174397	GM12878	blood:	n/a	n/a
13	ATF3	chr7:27135503-27135861	GM12878	blood:	n/a	n/a
14	ATF3	chr7:27170448-27170879	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
15	ATF3	chr7:27170360-27170771	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
16	ATF3	chr7:27154672-27155277	A549	lung:	n/a	n/a
17	ATF3	chr7:27170457-27170634	GM12878	blood:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
18	ATF3	chr7:27135516-27135942	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF3	chr7:27135553-27135757	GM12878	blood:	n/a	n/a
20	ATF3	chr7:27135543-27135762	K562	blood:	n/a	n/a
21	ATF3	chr7:27135477-27135887	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr7:27170463-27170795	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
23	ATF3	chr7:27170355-27170818	H1-hESC	embryonic stem cell:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
24	ATF3	chr7:27175370-27176398	A549	lung:	n/a	n/a
25	ATF3	chr7:27170368-27170749	HepG2	liver:	n/a	chr7:27170556-27170565 chr7:27170549-27170558
26	BACH1	chr7:27179003-27179135	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr7:27136144-27136879	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr7:27162144-27162323	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr7:27146489-27146504	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	chr7:27160610-27160638	K562	blood:	n/a	n/a
32	BATF	chr7:27135414-27135713	GM12878	blood:	n/a	n/a
33	BATF	chr7:27174043-27174335	GM12878	blood:	n/a	chr7:27174182-27174193
34	BATF	chr7:27135363-27135761	GM12878	blood:	n/a	n/a
35	BATF	chr7:27139432-27139694	GM12878	blood:	n/a	chr7:27139578-27139589
36	BATF	chr7:27174042-27174424	GM12878	blood:	n/a	chr7:27174182-27174193
37	BATF	chr7:27139418-27139661	GM12878	blood:	n/a	chr7:27139578-27139589
38	BCL11A	chr7:27174091-27174316	GM12878	blood:	n/a	n/a
39	BCL11A	chr7:27135412-27135674	GM12878	blood:	n/a	chr7:27135583-27135592
40	BCL11A	chr7:27135364-27135734	GM12878	blood:	n/a	chr7:27135583-27135592
41	BCL3	chr7:27149965-27150409	GM12878	blood:	n/a	n/a
42	BCL3	chr7:27150153-27150988	A549	lung:	n/a	chr7:27150501-27150514
43	BCL3	chr7:27135371-27135981	A549	lung:	n/a	chr7:27135583-27135592
44	BCL3	chr7:27175412-27176007	A549	lung:	n/a	n/a
45	BCL3	chr7:27150152-27150424	GM12878	blood:	n/a	n/a
46	BCL3	chr7:27152827-27153458	A549	lung:	n/a	n/a
47	BCL3	chr7:27174044-27174332	GM12878	blood:	n/a	n/a
48	BCL3	chr7:27175356-27176364	A549	lung:	n/a	n/a
49	BCL3	chr7:27151044-27151749	A549	lung:	n/a	n/a
50	BCL3	chr7:27154747-27155495	A549	lung:	n/a	n/a

(count:10993 , 50 per page) page: 1 2 3 4 5 6 7 ... 220

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27152583-27152633	PANC-1	pancreas:	n/a
2	chr7:27142700-27142750	AG04449	skin:	fetal
3	chr7:27181671-27181721	Caco-2	colon:	n/a
4	chr7:27162294-27162344	HUVEC	blood vessel:	n/a
5	chr7:27145159-27145209	GM12878	blood:	n/a
6	chr7:27135780-27135830	GM12892	blood:	n/a
7	chr7:27143334-27143384	GM12878	blood:	n/a
8	chr7:27142547-27142597	NB4	blood:	n/a
9	chr7:27142535-27142585	SAEC	small airway:	n/a
10	chr7:27155036-27155086	H1-hESC	embryonic stem cell:	embryo
11	chr7:27135780-27135830	HRCEpiC	kidney:	n/a
12	chr7:27169068-27169118	HPAEpiC	pulmonary alveolar:	n/a
13	chr7:27154264-27154314	SAEC	small airway:	n/a
14	chr7:27152583-27152633	PANC-1	pancreas:	n/a
15	chr7:27142700-27142750	AG04449	skin:	fetal
16	chr7:27181671-27181721	Caco-2	colon:	n/a
17	chr7:27162294-27162344	HUVEC	blood vessel:	n/a
18	chr7:27145159-27145209	GM12878	blood:	n/a
19	chr7:27135780-27135830	GM12892	blood:	n/a
20	chr7:27143334-27143384	GM12878	blood:	n/a
21	chr7:27142547-27142597	NB4	blood:	n/a
22	chr7:27142535-27142585	SAEC	small airway:	n/a
23	chr7:27155036-27155086	H1-hESC	embryonic stem cell:	embryo
24	chr7:27135780-27135830	HRCEpiC	kidney:	n/a
25	chr7:27169068-27169118	HPAEpiC	pulmonary alveolar:	n/a
26	chr7:27154264-27154314	SAEC	small airway:	n/a
27	chr7:27171528-27171578	A549	lung:	n/a
28	chr7:27154660-27154710	GM06990	blood:	n/a
29	chr7:27160586-27160636	AG09309	skin:	n/a
30	chr7:27170892-27170942	HUVEC	blood vessel:	n/a
31	chr7:27166103-27166153	Hepatocyte	liver:	n/a
32	chr7:27147206-27147256	H1-hESC	embryonic stem cell:	embryo
33	chr7:27161624-27161674	Jurkat	blood:	n/a
34	chr7:27168688-27168738	ECC-1	luminal epithelium:	n/a
35	chr7:27177068-27177118	Caco-2	colon:	n/a
36	chr7:27157818-27157868	AG04449	skin:	fetal
37	chr7:27160586-27160636	NH-A	brain:	n/a
38	chr7:27170832-27170882	HIPEpiC	eye:	n/a
39	chr7:27150031-27150081	K562	blood:	n/a
40	chr7:27143403-27143453	AG04449	skin:	fetal
41	chr7:27148204-27148254	GM12878	blood:	n/a
42	chr7:27148002-27148052	IMR90	lung:	fetal
43	chr7:27143252-27143302	AoSMC	blood vessel:	n/a
44	chr7:27154911-27154961	HCT-116	colon:	n/a
45	chr7:27170241-27170291	HL-60	blood:	n/a
46	chr7:27135477-27135527	HRE	kidney:	n/a
47	chr7:27150031-27150081	GM12891	blood:	n/a
48	chr7:27135769-27135819	SK-N-SH	brain:	n/a
49	chr7:27181067-27181117	GM12878	blood:	n/a
50	chr7:27142437-27142487	GM19239	blood:	n/a

(count:110 , 50 per page) page: 1 2 3

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:27156413-27158219..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
2	chr7:27164893..27167743-chr7:27169622..27171494,2	K562	blood:
3	chr3:186284854..186285731-chr7:27170175..27170751,2	NB4	blood:
4	7:27162022-27164727..7:27176959-27181770	H1-hESC	embryonic stem cell:	embryo
5	chr12:53273583..53274199-chr7:27137731..27138330,2	MCF-7	breast:
6	chr7:27176401..27178574-chr7:27179994..27182011,2	K562	blood:
7	chr7:26902248..26905091-chr7:27166314..27168813,2	MCF-7	breast:
8	chr7:27134944..27136463-chr7:27148714..27151131,2	MCF-7	breast:
9	chr7:27136703..27139680-chr7:27141228..27142949,2	K562	blood:
10	7:27156413-27158219..7:27210222-27216016	H1-hESC	embryonic stem cell:	embryo
11	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
12	chr7:27033159..27035839-chr7:27140304..27142024,2	MCF-7	breast:
13	chr7:26892969..26894016-chr7:27175632..27176342,3	MCF-7	breast:
14	7:27156413-27158219..7:27207968-27210222	H1-hESC	embryonic stem cell:	embryo
15	chr7:27170268..27172208-chr7:27181167..27182998,2	MCF-7	breast:
16	7:27082525-27089724..7:27176959-27181770	Hela-S3	cervix:
17	chr7:27163696..27168800-chr7:27169622..27172644,4	K562	blood:
18	7:27162022-27164727..7:27165488-27167947	H1-hESC	embryonic stem cell:	embryo
19	chr7:27153704..27155716-chr7:27164230..27167167,2	MCF-7	breast:
20	chr7:27178227..27179948-chr7:27181213..27183390,2	MCF-7	breast:
21	7:27130634-27137201..7:27156413-27158219	H1-hESC	embryonic stem cell:	embryo
22	chr7:26895304..26897479-chr7:27176431..27178268,2	MCF-7	breast:
23	chr7:27150791..27152361-chr7:27154839..27156981,2	MCF-7	breast:
24	7:27156413-27158219..7:27282073-27287306	H1-hESC	embryonic stem cell:	embryo
25	7:27162022-27164727..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
26	chr7:27142771..27145430-chr7:27145468..27147720,2	K562	blood:
27	7:27173201-27176959..7:27203007-27207968	H1-hESC	embryonic stem cell:	embryo
28	chr7:26899720..26900649-chr7:27175363..27176615,9	MCF-7	breast:
29	chr7:26893107..26894049-chr7:27175583..27176696,5	MCF-7	breast:
30	7:27137201-27143270..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
31	chr7:26721088..26721712-chr7:27175807..27176765,2	MCF-7	breast:
32	7:27181770-27195105..7:27230275-27238414	GM12878	blood:
33	7:27162022-27164727..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
34	chr7:27136703..27139680-chr7:27141228..27142949,2	K562	blood:
35	7:27173201-27176959..7:27238414-27242313	H1-hESC	embryonic stem cell:	embryo
36	chr7:27181736..27184705-chr7:27188724..27191664,4	MCF-7	breast:
37	7:27156413-27158219..7:27181770-27195105	H1-hESC	embryonic stem cell:	embryo
38	chr7:27177506..27180077-chr7:27186748..27189037,2	MCF-7	breast:
39	chr7:26902947..26905299-chr7:27180909..27183737,2	MCF-7	breast:
40	7:27162022-27164727..7:27176959-27181770	H1-hESC	embryonic stem cell:	embryo
41	chr7:26902705..26905667-chr7:27132555..27137263,6	MCF-7	breast:
42	chr7:27168902..27171913-chr7:27172340..27176747,4	K562	blood:
43	chr7:27181480..27183219-chr7:27189259..27191878,2	MCF-7	breast:
44	chr7:27144721..27146967-chr7:27150748..27152379,2	K562	blood:
45	chr7:27154930..27155509-chr7:27182224..27183181,2	Hela-S3	cervix:
46	chr7:27154191..27156761-chr7:27169805..27172339,2	MCF-7	breast:
47	chr7:27170045..27170565-chr8:87526350..87526968,3	MCF-7	breast:
48	chr7:27176885..27178847-chr7:27180948..27184346,3	K562	blood:
49	chr7:27153704..27155716-chr7:27164230..27167167,2	MCF-7	breast:
50	chr7:26897524..26906359-chr7:27169396..27177834,18	MCF-7	breast:

(count:69 , 50 per page) page: 1 2

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-10	chr7:27162062-27162285	ENSG00000253552
2	lnc-EVX1-13	chr7:27139398-27139877	NONHSAT119664
3	lnc-EVX1-10	chr7:27161538-27162996	ENSG00000253552
4	lnc-EVX1-10	chr7:27161538-27162269	ENSG00000253552
5	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
6	lnc-EVX1-10	chr7:27155655-27156283	ENSG00000253552.3
7	lnc-EVX1-10	chr7:27167819-27168379	ENSG00000253552
8	lnc-EVX1-10	chr7:27161538-27161792	ENSG00000253552
9	lnc-HOXA4-1	chr7:27166505-27166689	NONHSAT119671
10	lnc-EVX1-10	chr7:27163079-27163257	ENSG00000253552
11	lnc-EVX1-13	chr7:27139398-27139773	ENSG00000233429.4
12	lnc-EVX1-13	chr7:27135852-27136007	ENSG00000233429.4
13	lnc-EVX1-10	chr7:27160556-27160812	ENSG00000253552
14	lnc-EVX1-13	chr7:27135810-27135946	ENSG00000233429.4
15	lnc-EVX1-13	chr7:27135713-27136007	ENSG00000233429.4
16	lnc-EVX1-10	chr7:27162195-27162285	ENSG00000253552
17	lnc-EVX1-10	chr7:27147396-27147488	ENSG00000253552
18	lnc-EVX1-10	chr7:27163079-27163437	ENSG00000253552
19	lnc-EVX1-10	chr7:27161538-27161818	ENSG00000253552
20	lnc-EVX1-10	chr7:27162167-27162285	ENSG00000253552
21	lnc-EVX1-13	chr7:27139398-27139877	NONHSAT119665
22	lnc-EVX1-10	chr7:27149654-27149814	NONHSAT119670
23	lnc-EVX1-10	chr7:27153555-27153612	ENSG00000253552
24	lnc-EVX1-13	chr7:27135713-27136007	ENSG00000233429.4
25	lnc-EVX1-10	chr7:27162086-27162285	ENSG00000253552
26	lnc-EVX1-10	chr7:27163079-27163257	ENSG00000253552
27	lnc-EVX1-10	chr7:27161536-27161645	ENSG00000253552
28	lnc-EVX1-13	chr7:27139398-27139758	ENSG00000233429.4
29	lnc-EVX1-10	chr7:27161538-27162495	NONHSAT119670
30	lnc-EVX1-13	chr7:27138458-27138985	ENSG00000233429.4
31	lnc-EVX1-13	chr7:27135743-27136007	ENSG00000233429.4
32	lnc-EVX1-13	chr7:27138717-27138985	NONHSAT119664
33	lnc-EVX1-13	chr7:27139398-27139758	ENSG00000233429.4
34	lnc-EVX1-10	chr7:27163079-27164229	ENSG00000253552
35	lnc-EVX1-10	chr7:27162787-27162844	ENSG00000253552
36	lnc-EVX1-10	chr7:27163079-27163257	ENSG00000253552
37	lnc-EVX1-13	chr7:27135713-27136007	NONHSAT119665
38	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
39	lnc-EVX1-10	chr7:27167819-27168312	ENSG00000253552
40	lnc-EVX1-13	chr7:27135852-27136007	ENSG00000233429.4
41	lnc-EVX1-13	chr7:27138458-27138985	ENSG00000233429.4
42	lnc-HOXA4-1	chr7:27166547-27166689	NONHSAT119681
43	lnc-EVX1-10	chr7:27149654-27149814	ENSG00000253552
44	lnc-EVX1-13	chr7:27139398-27139585	ENSG00000233429.4
45	lnc-EVX1-10	chr7:27161538-27161792	ENSG00000253552
46	lnc-EVX1-10	chr7:27173700-27173921	ENSG00000253552
47	lnc-EVX1-13	chr7:27138717-27138985	ENSG00000233429.4
48	lnc-HOXA4-1	chr7:27150310-27150379	NONHSAT119671
49	lnc-EVX1-13	chr7:27135743-27136007	ENSG00000233429.4
50	lnc-EVX1-13	chr7:27138717-27138985	ENSG00000233429.4

No data

(count:14 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	HOXA5	hsa-miR-340-5p	chr7:27181203-27181224
2	HOXA3	hsa-miR-10a-5p	chr7:27147227-27147252
3	HOXA5	hsa-miR-19b-3p	chr7:27180870-27180864
4	HOXA5	hsa-miR-196a-5p	chr7:27181012-27181005
5	HOXA5	hsa-miR-183-5p	chr7:27181297-27181318
6	HOXA5	hsa-miR-130b-3p	chr7:27181091-27181114
7	HOXA5	hsa-miR-130a-3p	chr7:27181097-27181091
8	HOXA3	hsa-miR-16-5p	chr7:27146679-27146673
9	HOXA5	hsa-miR-130b-3p	chr7:27181097-27181091
10	HOXA3	hsa-miR-10a-5p	chr7:27147233-27147226
11	HOXA5	hsa-miR-130a-3p	chr7:27181091-27181114
12	HOXA3	hsa-miR-16-5p	chr7:27146673-27146694
13	HOXA5	hsa-miR-196a-5p	chr7:27181006-27181027
14	HOXA5	hsa-miR-19a-3p	chr7:27180870-27180864

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

Extended variants
information (count: 1720 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:1720 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368428758	chr7:27135314-27135315	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs2074398	chr7:27135319-27135320	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
3	rs199620262	chr7:27135322-27135323	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs577426612	chr7:27135325-27135326	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs533892779	chr7:27135338-27135339	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs373107510	chr7:27135341-27135342	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs559987637	chr7:27135343-27135344	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
8	rs376243279	chr7:27135344-27135345	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
9	rs77832452	chr7:27135358-27135359	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
10	rs144288739	chr7:27135381-27135382	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
11	rs146737549	chr7:27135390-27135391	Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
12	rs200922808	chr7:27135412-27135413	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
13	rs140318803	chr7:27135437-27135438	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
14	rs370896322	chr7:27135445-27135446	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
15	rs104894017	chr7:27135448-27135449	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs150376380	chr7:27135453-27135454	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs104894018	chr7:27135456-27135457	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
18	rs374581356	chr7:27135471-27135472	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs367605225	chr7:27135476-27135477	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs370355386	chr7:27135504-27135505	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs199540608	chr7:27135563-27135564	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs372667623	chr7:27135579-27135580	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs376159031	chr7:27135597-27135598	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs368221577	chr7:27135641-27135642	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
25	rs570731900	chr7:27135642-27135643	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
26	rs45602734	chr7:27135645-27135646	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
27	rs45491004	chr7:27135653-27135654	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
28	rs533047031	chr7:27135680-27135681	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
29	rs546435383	chr7:27135685-27135686	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
30	rs566308922	chr7:27135701-27135702	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
31	rs535237908	chr7:27135712-27135713	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs555460757	chr7:27135780-27135781	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
33	rs527296621	chr7:27135913-27135914	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 lncRNA	9 gene(s)	Overlapped CNVs	n/a
34	rs564686660	chr7:27135916-27135917	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 lncRNA	9 gene(s)	Overlapped CNVs	n/a
35	rs372601750	chr7:27135943-27135944	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 lncRNA	9 gene(s)	Overlapped CNVs	n/a
36	rs377219275	chr7:27135998-27135999	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 lncRNA	9 gene(s)	Overlapped CNVs	n/a
37	rs530524169	chr7:27136043-27136044	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
38	rs537858207	chr7:27136055-27136056	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
39	rs557460238	chr7:27136075-27136076	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
40	rs577660516	chr7:27136076-27136077	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
41	rs370040135	chr7:27136091-27136092	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
42	rs373125836	chr7:27136110-27136111	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
43	rs553639986	chr7:27136119-27136120	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
44	rs573488861	chr7:27136172-27136173	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
45	rs542411592	chr7:27136241-27136242	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs34725546	chr7:27136247-27136248	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
47	rs530867970	chr7:27136248-27136249	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
48	rs544633889	chr7:27136277-27136278	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
49	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
50	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

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:3319 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27135600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:27134400-27135400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:27134400-27139000	Active TSS	HMEC	breast
8	chr7:27134600-27135400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
9	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr7:27134600-27136800	Active TSS	A549	lung
11	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
13	chr7:27134600-27137400	Active TSS	NHEK	skin
14	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
15	chr7:27134800-27135400	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr7:27134800-27135400	Flanking Active TSS	HUVEC	blood vessel
17	chr7:27134800-27135600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
19	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
20	chr7:27134800-27135600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:27134800-27135600	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:27134800-27135600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
23	chr7:27134800-27135800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:27134800-27136200	Bivalent/Poised TSS	Thymus	Thymus
25	chr7:27134800-27136800	Active TSS	HSMM	muscle
26	chr7:27134800-27136800	Active TSS	NHDF-Ad	bronchial
27	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
30	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr7:27135000-27135400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
32	chr7:27135000-27135400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:27135000-27135400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
35	chr7:27135000-27135400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
39	chr7:27135000-27135400	Flanking Active TSS	Esophagus	oesophagus
40	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr7:27135000-27135400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
42	chr7:27135000-27135400	Enhancers	Lung	lung
43	chr7:27135000-27135600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
45	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
46	chr7:27135000-27135600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:27135000-27135600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
48	chr7:27135000-27135600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr7:27135000-27135600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:27135000-27135600	Bivalent/Poised TSS	Brain Anterior Caudate	brain

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