Variant report

Variant	nsv970323
Chromosome Location	chr6:12006884-12020375
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:12007783-12009305	K562	blood:	n/a	n/a
2	ARID3A	chr6:12013373-12014695	K562	blood:	n/a	n/a
3	ARID3A	chr6:12012993-12013095	HepG2	liver:	n/a	n/a
4	ARID3A	chr6:12010794-12011811	HepG2	liver:	n/a	n/a
5	ARID3A	chr6:12011582-12011705	K562	blood:	n/a	n/a
6	ARID3A	chr6:12008456-12009227	HepG2	liver:	n/a	n/a
7	ARID3A	chr6:12013368-12013886	HepG2	liver:	n/a	n/a
8	ARID3A	chr6:12007786-12008220	HepG2	liver:	n/a	n/a
9	ATF1	chr6:12011060-12011818	K562	blood:	n/a	chr6:12011566-12011580
10	ATF2	chr6:12009601-12010786	GM12878	blood:	n/a	n/a
11	ATF2	chr6:12013004-12013821	GM12878	blood:	n/a	n/a
12	ATF2	chr6:12008348-12009382	GM12878	blood:	n/a	n/a
13	ATF2	chr6:12010834-12011893	GM12878	blood:	n/a	chr6:12011566-12011580
14	ATF2	chr6:12013156-12013740	GM12878	blood:	n/a	n/a
15	ATF2	chr6:12010890-12011328	H1-hESC	embryonic stem cell:	n/a	n/a
16	ATF2	chr6:12010929-12011363	H1-hESC	embryonic stem cell:	n/a	n/a
17	ATF2	chr6:12011372-12011784	H1-hESC	embryonic stem cell:	n/a	chr6:12011566-12011580
18	ATF2	chr6:12010841-12011813	GM12878	blood:	n/a	chr6:12011566-12011580
19	ATF2	chr6:12008726-12009363	GM12878	blood:	n/a	n/a
20	ATF2	chr6:12011507-12011774	H1-hESC	embryonic stem cell:	n/a	chr6:12011566-12011580
21	ATF3	chr6:12011528-12011749	HepG2	liver:	n/a	chr6:12011567-12011577 chr6:12011570-12011577 chr6:12011567-12011580 chr6:12011567-12011580 chr6:12011569-12011580 chr6:12011568-12011579 chr6:12011569-12011577 chr6:12011566-12011579 chr6:12011568-12011581 chr6:12011566-12011581 chr6:12011570-12011580 chr6:12011568-12011579 chr6:12011570-12011580 chr6:12011567-12011577
22	ATF3	chr6:12011370-12011801	K562	blood:	n/a	chr6:12011567-12011577 chr6:12011570-12011577 chr6:12011567-12011580 chr6:12011567-12011580 chr6:12011569-12011580 chr6:12011568-12011579 chr6:12011569-12011577 chr6:12011566-12011579 chr6:12011568-12011581 chr6:12011566-12011581 chr6:12011570-12011580 chr6:12011568-12011579 chr6:12011570-12011580 chr6:12011567-12011577
23	ATF3	chr6:12011554-12011796	K562	blood:	n/a	chr6:12011567-12011577 chr6:12011570-12011577 chr6:12011567-12011580 chr6:12011567-12011580 chr6:12011569-12011580 chr6:12011568-12011579 chr6:12011569-12011577 chr6:12011566-12011579 chr6:12011568-12011581 chr6:12011566-12011581 chr6:12011570-12011580 chr6:12011568-12011579 chr6:12011570-12011580 chr6:12011567-12011577
24	ATF3	chr6:12011613-12011737	GM12878	blood:	n/a	n/a
25	BACH1	chr6:12020265-12020581	K562	blood:	n/a	n/a
26	BACH1	chr6:12009094-12009687	H1-hESC	embryonic stem cell:	n/a	n/a
27	BACH1	chr6:12013319-12013861	H1-hESC	embryonic stem cell:	n/a	n/a
28	BACH1	chr6:12010642-12010722	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr6:12009108-12009171	K562	blood:	n/a	n/a
30	BACH1	chr6:12009585-12009939	K562	blood:	n/a	n/a
31	BATF	chr6:12009042-12009281	GM12878	blood:	n/a	n/a
32	BATF	chr6:12011160-12011582	GM12878	blood:	n/a	chr6:12011567-12011580 chr6:12011445-12011453
33	BATF	chr6:12008498-12008946	GM12878	blood:	n/a	n/a
34	BATF	chr6:12011080-12011627	GM12878	blood:	n/a	chr6:12011567-12011580 chr6:12011445-12011453
35	BCL11A	chr6:12010920-12011787	GM12878	blood:	n/a	chr6:12011543-12011556
36	BCL11A	chr6:12010848-12011768	GM12878	blood:	n/a	chr6:12011543-12011556
37	BCL3	chr6:12011051-12012168	GM12878	blood:	n/a	chr6:12011543-12011556
38	BCL3	chr6:12008640-12009406	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
39	BCLAF1	chr6:12012885-12013788	GM12878	blood:	n/a	chr6:12013324-12013333 chr6:12013494-12013503 chr6:12013318-12013327 chr6:12013321-12013330
40	BCLAF1	chr6:12009398-12009828	GM12878	blood:	n/a	n/a
41	BCLAF1	chr6:12008256-12009364	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
42	BCLAF1	chr6:12010472-12011690	GM12878	blood:	n/a	chr6:12011543-12011556
43	BCLAF1	chr6:12012862-12013824	GM12878	blood:	n/a	chr6:12013324-12013333 chr6:12013494-12013503 chr6:12013318-12013327 chr6:12013321-12013330
44	BCLAF1	chr6:12008409-12009390	GM12878	blood:	n/a	chr6:12009244-12009253 chr6:12009311-12009324 chr6:12009311-12009324
45	BCLAF1	chr6:12009970-12011802	GM12878	blood:	n/a	chr6:12010218-12010227 chr6:12011543-12011556
46	BHLHE40	chr6:12008611-12009779	HepG2	liver:	n/a	chr6:12009310-12009326
47	BHLHE40	chr6:12010739-12012402	K562	blood:	n/a	chr6:12012009-12012025
48	BHLHE40	chr6:12012965-12013174	K562	blood:	n/a	n/a
49	BHLHE40	chr6:12008514-12009694	K562	blood:	n/a	chr6:12009310-12009326
50	BHLHE40	chr6:12008368-12009828	GM12878	blood:	n/a	chr6:12009310-12009326

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:12011181-12011231	HCT-116	colon:	n/a
2	chr6:12013467-12013517	HCT-116	colon:	n/a
3	chr6:12011181-12011231	HCT-116	colon:	n/a
4	chr6:12013467-12013517	HCT-116	colon:	n/a
5	chr6:12013467-12013517	HL-60	blood:	n/a
6	chr6:12013214-12013264	HCT-116	colon:	n/a
7	chr6:12015979-12016029	RPTEC	kidney:	n/a
8	chr6:12012569-12012619	HMEC	breast:	n/a
9	chr6:12010960-12011010	HUVEC	blood vessel:	n/a
10	chr6:12013214-12013264	HAEpiC	amniotic membrane:	n/a
11	chr6:12013002-12013052	MCF-7	breast:	n/a
12	chr6:12008908-12008958	HL-60	blood:	n/a
13	chr6:12010960-12011010	NB4	blood:	n/a
14	chr6:12012564-12012614	HCF	heart:	n/a
15	chr6:12011312-12011362	HL-60	blood:	n/a
16	chr6:12010960-12011010	BE2_C	brain:	n/a
17	chr6:12008908-12008958	BE2_C	brain:	n/a
18	chr6:12012580-12012630	HCPEpiC	choroid plexus:	n/a
19	chr6:12012242-12012292	K562	blood:	n/a
20	chr6:12011312-12011362	AG09319	gingival:	n/a
21	chr6:12015979-12016029	U87	brain:	n/a
22	chr6:12008908-12008958	NHBE	bronchial:	n/a
23	chr6:12008908-12008958	HMEC	breast:	n/a
24	chr6:12012569-12012619	K562	blood:	n/a
25	chr6:12012261-12012311	ProgFib	skin:	n/a
26	chr6:12013467-12013517	AG09319	gingival:	n/a
27	chr6:12012057-12012107	PrEC	prostate:	n/a
28	chr6:12012057-12012107	Hela-S3	cervix:	n/a
29	chr6:12012551-12012601	H1-hESC	embryonic stem cell:	embryo
30	chr6:12012569-12012619	Hepatocyte	liver:	n/a
31	chr6:12008908-12008958	A549	lung:	n/a
32	chr6:12009578-12009628	MCF10A-Er-Src	breast:	n/a
33	chr6:12008851-12008901	SK-N-MC	brain:	n/a
34	chr6:12012544-12012594	HepG2	liver:	n/a
35	chr6:12013467-12013517	PFSK-1	brain:	n/a
36	chr6:12012564-12012614	Hepatocyte	liver:	n/a
37	chr6:12009578-12009628	ProgFib	skin:	n/a
38	chr6:12015979-12016029	AG04450	lung:	fetal
39	chr6:12012564-12012614	HRCEpiC	kidney:	n/a
40	chr6:12011930-12011980	SKMC	muscle:	n/a
41	chr6:12015979-12016029	A549	lung:	n/a
42	chr6:12018635-12018685	AG09309	skin:	n/a
43	chr6:12009578-12009628	HCM	heart:	n/a
44	chr6:12009163-12009213	HEK293	kidney:	embryo
45	chr6:12012564-12012614	HCPEpiC	choroid plexus:	n/a
46	chr6:12008908-12008958	PANC-1	pancreas:	n/a
47	chr6:12012544-12012594	HEK293	kidney:	embryo
48	chr6:12013214-12013264	LNCaP	prostate:	n/a
49	chr6:12012242-12012292	HCF	heart:	n/a
50	chr6:12013467-12013517	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:12009262..12013340-chr6:12286174..12290698,6	MCF-7	breast:
2	chr19:15442596..15443457-chr6:12008582..12009195,2	Hela-S3	cervix:
3	chr6:12010419..12012181-chr6:12045001..12046641,2	K562	blood:
4	chr6:11990947..11994181-chr6:12007149..12010077,3	K562	blood:
5	chr6:11865768..11869319-chr6:12009325..12011874,4	K562	blood:
6	chr6:11733150..11736062-chr6:12007778..12010289,2	K562	blood:
7	chr6:11865768..11868889-chr6:12009325..12011874,3	K562	blood:
8	chr6:11796589..11798464-chr6:12010178..12011844,2	K562	blood:
9	chr1:109968661..109969227-chr6:12008493..12009023,2	Hela-S3	cervix:
10	chr6:12012615..12014347-chr6:20401319..20403789,2	K562	blood:
11	chr16:4475034..4475714-chr6:12008711..12009473,2	Hela-S3	cervix:
12	chr6:11918788..11920525-chr6:12013699..12015737,2	K562	blood:
13	chr6:11916741..11918485-chr6:12009414..12011071,2	K562	blood:
14	chr6:11935076..11937337-chr6:12009000..12010923,2	K562	blood:
15	chr6:11880134..11882606-chr6:12009831..12012097,2	K562	blood:
16	chr6:12009789..12012137-chr6:12043704..12046977,3	MCF-7	breast:
17	chr6:11944959..11946761-chr6:12016853..12018812,2	K562	blood:
18	chr6:11990522..11992970-chr6:12011349..12014154,2	MCF-7	breast:
19	chr6:12012948..12015001-chr6:12120385..12122503,2	K562	blood:
20	chr17:41465688..41466547-chr6:12012651..12013455,2	Hela-S3	cervix:
21	chr6:12017880..12021749-chr6:12024798..12028599,4	MCF-7	breast:
22	chr11:66383680..66384551-chr6:12008610..12009525,2	Hela-S3	cervix:
23	chr6:11990349..11993299-chr6:12011133..12012920,2	MCF-7	breast:
24	chr6:11948021..11949598-chr6:12004227..12006951,2	K562	blood:
25	chr13:111268194..111268777-chr6:12010640..12011635,2	Hela-S3	cervix:
26	chr6:12008600..12009379-chr6:43737966..43738894,2	Hela-S3	cervix:
27	chr11:71791436..71791948-chr6:12009007..12009560,2	Hela-S3	cervix:
28	chr6:11766846..11771135-chr6:12008831..12011747,3	K562	blood:
29	chr6:12008844..12009838-chr7:134854735..134855590,2	Hela-S3	cervix:
30	chr12:57029606..57030383-chr6:12008234..12009003,2	Hela-S3	cervix:
31	chr6:12013025..12015246-chr6:12052001..12053535,2	K562	blood:
32	chr6:11766544..11768808-chr6:12011516..12013304,2	MCF-7	breast:
33	chr21:46237768..46238593-chr6:12009330..12009875,2	Hela-S3	cervix:
34	chr6:12009134..12010743-chr6:12145646..12148619,2	MCF-7	breast:
35	chr6:11873602..11875677-chr6:12009027..12011838,2	K562	blood:
36	chr6:12009898..12015137-chr6:12286715..12292291,9	MCF-7	breast:
37	chr11:76155540..76156298-chr6:12010242..12011092,2	Hela-S3	cervix:
38	chr15:78556049..78556549-chr6:12008716..12009219,2	Hela-S3	cervix:
39	chr6:11804488..11807450-chr6:12008603..12011488,3	MCF-7	breast:
40	chr16:284763..285582-chr6:12011450..12012007,2	Hela-S3	cervix:
41	chr6:11922704..11924727-chr6:12009251..12011603,2	K562	blood:
42	chr13:53024029..53024646-chr6:12008218..12008734,2	Hela-S3	cervix:
43	chr6:11766943..11769804-chr6:12011580..12013984,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HIVEP1-1	chr6:12008512-12008675	XLOC_005174
2	lnc-HIVEP1-1	chr6:12007903-12008059	ENSG00000229896.1
3	lnc-HIVEP1-1	chr6:12008512-12008876	ENSG00000229896.2
4	lnc-HIVEP1-1	chr6:12008196-12008222	XLOC_005174
5	lnc-HIVEP1-1	chr6:12008125-12008222	XLOC_005174
6	lnc-HIVEP1-1	chr6:12008103-12008222	ENSG00000229896.2
7	lnc-C6orf105-5	chr6:12008548-12009073	NONHSAT107775
8	lnc-HIVEP1-1	chr6:12008512-12009089	ENSG00000229896.1
9	lnc-C6orf105-5	chr6:12007817-12008266	NONHSAT107775
10	lnc-HIVEP1-1	chr6:12008174-12008222	ENSG00000229896.1
11	lnc-HIVEP1-1	chr6:12008512-12008853	XLOC_005174

Variant related genes	Relation type
ENSG00000229896	TF binding region
HIVEP1	TF binding region
ENSG00000229896	CpG island
HIVEP1	CpG island
ENSG00000184900	chromatin interactions
ENSG00000137497	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000158636	chromatin interactions
ENSG00000255135	chromatin interactions
ENSG00000141867	chromatin interactions
ENSG00000167930	chromatin interactions
ENSG00000112242	chromatin interactions
ENSG00000112715	chromatin interactions
ENSG00000225102	chromatin interactions
ENSG00000076108	chromatin interactions
ENSG00000259708	chromatin interactions
ENSG00000111863	chromatin interactions
ENSG00000188825	chromatin interactions
ENSG00000272114	chromatin interactions
ENSG00000136100	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000078401	chromatin interactions
ENSG00000122783	chromatin interactions
ENSG00000143106	chromatin interactions
ENSG00000184154	chromatin interactions
ENSG00000140403	chromatin interactions
ENSG00000262246	chromatin interactions
KIRREL	miRNA target sites
CLEC11A	miRNA target sites

Extended variants
information (count: 536 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561621872	chr6:12006919-12006920	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
2	rs7753800	chr6:12006926-12006927	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs570078086	chr6:12006960-12006961	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs182572572	chr6:12007006-12007007	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs60765903	chr6:12007061-12007062	Weak transcription Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs185762768	chr6:12007122-12007123	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs190467015	chr6:12007132-12007133	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs144880307	chr6:12007141-12007142	Weak transcription Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs554357840	chr6:12007220-12007221	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs141045516	chr6:12007329-12007330	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs143075934	chr6:12007341-12007342	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs563417311	chr6:12007349-12007350	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs565129687	chr6:12007356-12007357	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs151198763	chr6:12007423-12007424	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs545872243	chr6:12007448-12007449	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559651203	chr6:12007449-12007450	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs528608795	chr6:12007455-12007456	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs548670723	chr6:12007489-12007490	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs12530111	chr6:12007599-12007600	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs568695425	chr6:12007601-12007602	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs183040827	chr6:12007603-12007604	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs530618638	chr6:12007612-12007613	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs551291022	chr6:12007625-12007626	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs571047739	chr6:12007627-12007628	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs538675711	chr6:12007639-12007640	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs551893362	chr6:12007670-12007671	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs565301022	chr6:12007673-12007674	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs550317123	chr6:12007680-12007681	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs34874050	chr6:12007697-12007698	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs34091658	chr6:12007730-12007731	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs534432964	chr6:12007731-12007732	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs567234710	chr6:12007735-12007736	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs141287427	chr6:12007761-12007762	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs529907340	chr6:12007774-12007775	Enhancers Weak transcription Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs199825203	chr6:12007828-12007829	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
36	rs574323956	chr6:12007874-12007875	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
37	rs536836221	chr6:12007904-12007905	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
38	rs557266645	chr6:12007962-12007963	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
39	rs188754694	chr6:12008004-12008005	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
40	rs78164230	chr6:12008035-12008036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
41	rs534551937	chr6:12008072-12008073	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	Overlapped CNVs	n/a
42	rs72826011	chr6:12008078-12008079	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs56115353	chr6:12008085-12008086	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs562150749	chr6:12008106-12008107	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
45	rs200603063	chr6:12008127-12008128	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
46	rs35742723	chr6:12008132-12008133	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
47	rs115194021	chr6:12008176-12008177	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
48	rs376702187	chr6:12008201-12008202	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	Overlapped CNVs	n/a
49	rs564657028	chr6:12008247-12008248	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a
50	rs571855944	chr6:12008252-12008253	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	17603634	CNVD
Cancer	20164920	CNVD
Colorectal cancer	21297112	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Multiple myeloma	17550852	CNVD
Ewing''s sarcoma	17952124	CNVD
Gastric cancer	16891809	CNVD
Ovarian cancer	21781307	CNVD
Autism	22495311	CNVD
Autism	21448237	CNVD
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
small cell lung cancer	20016488	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Osteosarcoma	16790693	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ovarian cancer	21720365	CNVD
Cancer	21183584	CNVD
Acute myeloid leukemia	18000384	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Burkitt''s lymphoma	19759907	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Metastatic melanoma	18483359	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1278 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11990800-12007200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr6:11995600-12007800	Weak transcription	Hela-S3	cervix
3	chr6:11998400-12007800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr6:11999600-12008400	Weak transcription	Psoas Muscle	Psoas
5	chr6:12001600-12008400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:12001800-12008200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr6:12001800-12008400	Weak transcription	Osteobl	bone
8	chr6:12002000-12007200	Weak transcription	NHDF-Ad	bronchial
9	chr6:12002000-12008200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:12002000-12008200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr6:12002200-12007200	Weak transcription	Fetal Muscle Leg	muscle
12	chr6:12002200-12008400	Weak transcription	Adipose Nuclei	Adipose
13	chr6:12002200-12008400	Weak transcription	Fetal Brain Female	brain
14	chr6:12002600-12007200	Weak transcription	Fetal Lung	lung
15	chr6:12002600-12007200	Weak transcription	HepG2	liver
16	chr6:12004400-12007200	Weak transcription	Fetal Heart	heart
17	chr6:12004600-12008000	Weak transcription	Brain Germinal Matrix	brain
18	chr6:12005600-12007400	Enhancers	K562	blood
19	chr6:12007000-12008200	Enhancers	Fetal Intestine Large	intestine
20	chr6:12007200-12007400	Enhancers	NHDF-Ad	bronchial
21	chr6:12007200-12007600	Flanking Active TSS	HepG2	liver
22	chr6:12007200-12007800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:12007200-12007800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:12007200-12007800	Enhancers	Fetal Kidney	kidney
25	chr6:12007200-12007800	Enhancers	Fetal Muscle Leg	muscle
26	chr6:12007200-12007800	Enhancers	NHEK	skin
27	chr6:12007200-12008000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:12007200-12008200	Enhancers	Fetal Heart	heart
29	chr6:12007200-12008200	Enhancers	Fetal Intestine Small	intestine
30	chr6:12007200-12008200	Enhancers	Fetal Lung	lung
31	chr6:12007200-12008600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:12007400-12007600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:12007400-12007800	Enhancers	Fetal Muscle Trunk	muscle
34	chr6:12007400-12008200	Enhancers	Primary hematopoietic stem cells	blood
35	chr6:12007400-12008200	Enhancers	Fetal Stomach	stomach
36	chr6:12007400-12008200	Enhancers	Pancreas	Pancrea
37	chr6:12007400-12008200	Weak transcription	NHDF-Ad	bronchial
38	chr6:12007400-12013400	Active TSS	K562	blood
39	chr6:12007600-12007800	Enhancers	Lung	lung
40	chr6:12007600-12007800	Active TSS	HepG2	liver
41	chr6:12007600-12008400	Enhancers	Fetal Thymus	thymus
42	chr6:12007600-12008600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:12007800-12008000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
44	chr6:12007800-12008000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:12007800-12008000	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr6:12007800-12008200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:12007800-12008200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:12007800-12008200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:12007800-12008200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr6:12007800-12008200	Enhancers	Primary T cells from cord blood	blood

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