Variant report

Variant	esv3417138
Chromosome Location	chr9:71939382-71941480
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	BACH1	chr9:71940105-71940113	H1-hESC	embryonic stem cell:	n/a	n/a
2	BRCA1	chr9:71939386-71939797	H1-hESC	embryonic stem cell:	n/a	n/a
3	CHD1	chr9:71939130-71939630	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr9:71940562-71940662	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr9:71939386-71939672	H1-hESC	embryonic stem cell:	n/a	n/a
6	CHD2	chr9:71939858-71940186	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr9:71939374-71940226	H1-hESC	embryonic stem cell:	n/a	chr9:71939809-71939822
8	CTCF	chr9:71940580-71940730	HMEC	breast:	n/a	n/a
9	CTCF	chr9:71939909-71940136	NHEK	skin:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
10	CTCF	chr9:71939939-71940120	Hela-S3	cervix:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
11	CTCF	chr9:71939910-71940034	ProgFib	skin:	n/a	chr9:71940015-71940028 chr9:71939999-71940012
12	CTCF	chr9:71940013-71940096	Spleen_OC	spleen:	n/a	chr9:71940015-71940028 chr9:71940036-71940049
13	CTCF	chr9:71940507-71940629	Fibrobl	skin:	n/a	chr9:71940507-71940520
14	CTCF	chr9:71940530-71940570	H1-hESC	embryonic stem cell:	n/a	n/a
15	CTCF	chr9:71939960-71940110	HPAF	blood vessel:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
16	CTCF	chr9:71939880-71940161	MCF-7	breast:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
17	CTCF	chr9:71939940-71940090	RPTEC	kidney:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
18	CTCF	chr9:71940540-71940690	SAEC	small airway:	n/a	n/a
19	CTCF	chr9:71940540-71940690	HUVEC	blood vessel:	n/a	n/a
20	CTCF	chr9:71939980-71940130	NHEK	skin:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
21	CTCF	chr9:71940498-71940643	A549	lung:	n/a	chr9:71940507-71940520
22	CTCF	chr9:71940456-71940668	MCF-7	breast:	n/a	chr9:71940507-71940520
23	CTCF	chr9:71939480-71939630	NHEK	skin:	n/a	n/a
24	CTCF	chr9:71939860-71940010	HRPEpiC	eye:	n/a	n/a
25	CTCF	chr9:71940540-71940690	NHEK	skin:	n/a	n/a
26	CTCF	chr9:71940538-71940600	ProgFib	skin:	n/a	n/a
27	CTCF	chr9:71939894-71940167	MCF-7	breast:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
28	CTCF	chr9:71939920-71940070	HRPEpiC	eye:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
29	CTCF	chr9:71939980-71940130	HEK293	kidney:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
30	CTCF	chr9:71939897-71940137	MCF-7	breast:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
31	CTCF	chr9:71939860-71940010	HEEpiC	esophagus:	n/a	n/a
32	CTCF	chr9:71939880-71940030	AG04449	skin:	n/a	chr9:71940015-71940028 chr9:71939999-71940012
33	CTCF	chr9:71940515-71940631	NHEK	skin:	n/a	n/a
34	CTCF	chr9:71939884-71940223	MCF-7	breast:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
35	CTCF	chr9:71939960-71940110	SAEC	small airway:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
36	CTCF	chr9:71939940-71940090	HMEC	breast:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
37	CTCF	chr9:71939800-71939950	A549	lung:	n/a	n/a
38	CTCF	chr9:71940541-71940637	Kidney_OC	kidney:	n/a	n/a
39	CTCF	chr9:71939919-71940104	Pancreas_OC	pancreas:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
40	CTCF	chr9:71939900-71940050	Hela-S3	cervix:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
41	CTCF	chr9:71939900-71940050	HepG2	liver:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
42	CTCF	chr9:71939934-71940111	Gliobla	brain:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
43	CTCF	chr9:71939535-71939571	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr9:71939515-71939625	MCF-7	breast:	n/a	n/a
45	CTCF	chr9:71939960-71940110	HCM	heart:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
46	CTCF	chr9:71940484-71940664	MCF-7	breast:	n/a	chr9:71940507-71940520
47	CTCF	chr9:71939982-71940103	Fibrobl	skin:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
48	CTCF	chr9:71940487-71940636	MCF-7	breast:	n/a	chr9:71940507-71940520
49	CTCF	chr9:71939903-71940127	A549	lung:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049
50	CTCF	chr9:71939980-71940130	MCF-7	breast:	n/a	chr9:71940015-71940028 chr9:71939999-71940012 chr9:71940036-71940049

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:71940563-71940613	HEEpiC	esophagus:	n/a
2	chr9:71940563-71940613	HEEpiC	esophagus:	n/a
3	chr9:71940563-71940613	ProgFib	skin:	n/a
4	chr9:71939349-71939399	HRE	kidney:	n/a
5	chr9:71940287-71940337	HCF	heart:	n/a
6	chr9:71940563-71940613	MCF10A-Er-Src	breast:	n/a
7	chr9:71940287-71940337	Caco-2	colon:	n/a
8	chr9:71940287-71940337	K562	blood:	n/a
9	chr9:71939349-71939399	K562	blood:	n/a
10	chr9:71940563-71940613	AoSMC	blood vessel:	n/a
11	chr9:71940563-71940613	SK-N-SH	brain:	n/a
12	chr9:71940287-71940337	ECC-1	luminal epithelium:	n/a
13	chr9:71940287-71940337	Hela-S3	cervix:	n/a
14	chr9:71939349-71939399	A549	lung:	n/a
15	chr9:71940563-71940613	Caco-2	colon:	n/a
16	chr9:71940563-71940613	AG09309	skin:	n/a
17	chr9:71939349-71939399	Hepatocyte	liver:	n/a
18	chr9:71940563-71940613	AG04449	skin:	fetal
19	chr9:71940563-71940613	HRE	kidney:	n/a
20	chr9:71940287-71940337	HUVEC	blood vessel:	n/a
21	chr9:71939349-71939399	PFSK-1	brain:	n/a
22	chr9:71939349-71939399	MCF-7	breast:	n/a
23	chr9:71940563-71940613	HUVEC	blood vessel:	n/a
24	chr9:71939349-71939399	ovcar-3	ovarian:	n/a
25	chr9:71939349-71939399	LNCaP	prostate:	n/a
26	chr9:71939349-71939399	SKMC	muscle:	n/a
27	chr9:71940287-71940337	H1-hESC	embryonic stem cell:	embryo
28	chr9:71940287-71940337	GM12891	blood:	n/a
29	chr9:71940287-71940337	NHDF-neo	bronchial:	n/a
30	chr9:71940563-71940613	HCPEpiC	choroid plexus:	n/a
31	chr9:71940287-71940337	BE2_C	brain:	n/a
32	chr9:71940287-71940337	SKMC	muscle:	n/a
33	chr9:71940287-71940337	AG04449	skin:	fetal
34	chr9:71940563-71940613	BJ	skin:	n/a
35	chr9:71940287-71940337	RPTEC	kidney:	n/a
36	chr9:71939349-71939399	HIPEpiC	eye:	n/a
37	chr9:71939349-71939399	HEK293	kidney:	embryo
38	chr9:71940563-71940613	LNCaP	prostate:	n/a
39	chr9:71939349-71939399	U87	brain:	n/a
40	chr9:71940287-71940337	ovcar-3	ovarian:	n/a
41	chr9:71939349-71939399	SAEC	small airway:	n/a
42	chr9:71940563-71940613	IMR90	lung:	fetal
43	chr9:71940287-71940337	NT2-D1	testis:	n/a
44	chr9:71939349-71939399	HMEC	breast:	n/a
45	chr9:71940287-71940337	Jurkat	blood:	n/a
46	chr9:71940563-71940613	GM12892	blood:	n/a
47	chr9:71940563-71940613	AG09319	gingival:	n/a
48	chr9:71939349-71939399	BJ	skin:	n/a
49	chr9:71940563-71940613	PANC-1	pancreas:	n/a
50	chr9:71940563-71940613	NHBE	bronchial:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:71941355..71943004-chr9:71944003..71945586,2	MCF-7	breast:
2	chr9:71937269..71941011-chr9:72000572..72004392,4	MCF-7	breast:
3	chr9:71938510..71941284-chr9:71942079..71947019,4	MCF-7	breast:
4	chr9:71939857..71941604-chr9:71989524..71992457,2	MCF-7	breast:
5	chr9:71939667..71941572-chr9:71995013..71999921,5	MCF-7	breast:
6	chr9:71810860..71813115-chr9:71939521..71941834,2	MCF-7	breast:
7	chr17:57696897..57697889-chr9:71940008..71940591,2	MCF-7	breast:
8	chr9:71940098..71942516-chr9:71992469..71994657,3	MCF-7	breast:
9	chr9:71939962..71941547-chr9:71947725..71950010,2	MCF-7	breast:

Variant related genes	Relation type
FAM189A2	TF binding region
FAM189A2	CpG island
ENSG00000141367	chromatin interactions
ENSG00000135063	chromatin interactions

Extended variants
information (count: 74 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548850584	chr9:71939426-71939427	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs563796644	chr9:71939429-71939430	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10867357	chr9:71939431-71939432	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs552760454	chr9:71939439-71939440	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs570569087	chr9:71939442-71939443	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs537057602	chr9:71939470-71939471	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs534695921	chr9:71939477-71939478	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs73649651	chr9:71939500-71939501	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568025774	chr9:71939519-71939520	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs145935254	chr9:71939536-71939537	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs139986906	chr9:71939537-71939538	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs575167703	chr9:71939555-71939556	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs539252912	chr9:71939574-71939575	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs540882984	chr9:71939624-71939625	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs576971989	chr9:71939634-71939635	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs541494781	chr9:71939660-71939661	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs78986996	chr9:71939686-71939687	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574794195	chr9:71939729-71939730	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs542274416	chr9:71939750-71939751	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs375234820	chr9:71939820-71939821	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs6559468	chr9:71939846-71939847	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs7850759	chr9:71939884-71939885	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369109374	chr9:71939914-71939915	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs531188485	chr9:71939945-71939946	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs552842120	chr9:71939955-71939956	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs564664668	chr9:71940108-71940109	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs145867264	chr9:71940190-71940191	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs113710419	chr9:71940199-71940200	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs528221970	chr9:71940206-71940207	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs111380269	chr9:71940290-71940291	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs546657668	chr9:71940319-71940320	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs568028434	chr9:71940333-71940334	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs528905836	chr9:71940343-71940344	Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs550261402	chr9:71940400-71940401	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs568852472	chr9:71940505-71940506	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs11138136	chr9:71940586-71940587	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs539344261	chr9:71940597-71940598	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs557559058	chr9:71940646-71940647	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs188881747	chr9:71940657-71940658	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs199694665	chr9:71940703-71940704	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs12005890	chr9:71940776-71940777	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs11138137	chr9:71940791-71940792	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574789814	chr9:71940817-71940818	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs565842192	chr9:71940840-71940841	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs542213419	chr9:71940874-71940875	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs201447188	chr9:71940889-71940890	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199758126	chr9:71940890-71940891	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs34080412	chr9:71940891-71940892	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs3067173	chr9:71940893-71940894	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs369286227	chr9:71940894-71940895	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71935800-71939400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:71935800-71939400	Weak transcription	Brain Angular Gyrus	brain
3	chr9:71937600-71942800	Active TSS	Fetal Heart	heart
4	chr9:71937800-71939400	Weak transcription	Hela-S3	cervix
5	chr9:71938000-71939400	Weak transcription	Pancreas	Pancrea
6	chr9:71938800-71939400	Active TSS	Brain Cingulate Gyrus	brain
7	chr9:71938800-71939400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr9:71938800-71940800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:71938800-71940800	Active TSS	Brain Substantia Nigra	brain
10	chr9:71938800-71941400	Active TSS	Brain Anterior Caudate	brain
11	chr9:71938800-71942800	Active TSS	Right Atrium	heart
12	chr9:71939000-71939400	Bivalent/Poised TSS	Fetal Stomach	stomach
13	chr9:71939000-71940600	Bivalent/Poised TSS	Fetal Lung	lung
14	chr9:71939000-71940800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr9:71939000-71941000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr9:71939000-71941000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
17	chr9:71939000-71941200	Active TSS	Ovary	ovary
18	chr9:71939000-71941400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr9:71939000-71942800	Active TSS	Stomach Smooth Muscle	stomach
20	chr9:71939200-71939400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr9:71939200-71939400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr9:71939200-71939400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
23	chr9:71939200-71939400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
24	chr9:71939200-71939400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr9:71939200-71939400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr9:71939200-71939400	Active TSS	Adipose Nuclei	Adipose
27	chr9:71939200-71939400	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr9:71939200-71939400	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
29	chr9:71939200-71939400	Bivalent Enhancer	Rectal Smooth Muscle	rectum
30	chr9:71939200-71939400	Active TSS	Right Ventricle	heart
31	chr9:71939200-71939400	Enhancers	HMEC	breast
32	chr9:71939200-71939600	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:71939200-71939600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr9:71939200-71939800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr9:71939200-71940000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
36	chr9:71939200-71940600	Active TSS	Brain Hippocampus Middle	brain
37	chr9:71939200-71940600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr9:71939200-71940800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
39	chr9:71939200-71940800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:71939200-71941000	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr9:71939200-71941200	Active TSS	H9 Cell Line	embryonic stem cell
42	chr9:71939200-71941400	Active TSS	Left Ventricle	heart
43	chr9:71939200-71944000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr9:71939400-71939600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr9:71939400-71939600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:71939400-71939600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
47	chr9:71939400-71939600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr9:71939400-71939600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
49	chr9:71939400-71939600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:71939400-71939600	Flanking Bivalent TSS/Enh	Liver	Liver

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