Variant report

Variant	esv3371600
Chromosome Location	chr11:65640076-65645374
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	ATF2	chr11:65641014-65641356	GM12878	blood:	n/a	n/a
2	ATF3	chr11:65641155-65641393	H1-hESC	embryonic stem cell:	n/a	chr11:65641272-65641292 chr11:65641160-65641180
3	ATF3	chr11:65641113-65641434	K562	blood:	n/a	chr11:65641272-65641292 chr11:65641160-65641180
4	ATF3	chr11:65641111-65641417	H1-hESC	embryonic stem cell:	n/a	chr11:65641272-65641292 chr11:65641160-65641180
5	BACH1	chr11:65641048-65641403	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr11:65640885-65641455	GM12878	blood:	n/a	n/a
7	BCL3	chr11:65640736-65641544	A549	lung:	n/a	n/a
8	BCL3	chr11:65640862-65641506	A549	lung:	n/a	n/a
9	BCLAF1	chr11:65640997-65641508	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:65640860-65641489	GM12878	blood:	n/a	n/a
11	BHLHE40	chr11:65640916-65641449	K562	blood:	n/a	n/a
12	BHLHE40	chr11:65640936-65641500	HepG2	liver:	n/a	n/a
13	BRCA1	chr11:65641010-65641297	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr11:65641004-65641006	GM12878	blood:	n/a	n/a
15	CBX3	chr11:65640800-65641482	K562	blood:	n/a	n/a
16	CCNT2	chr11:65640905-65641401	K562	blood:	n/a	n/a
17	CEBPB	chr11:65641178-65641422	H1-hESC	embryonic stem cell:	n/a	n/a
18	CEBPB	chr11:65640082-65640244	IMR90	lung:	n/a	n/a
19	CEBPD	chr11:65640880-65641313	HepG2	liver:	n/a	n/a
20	CHD2	chr11:65641006-65641304	HepG2	liver:	n/a	n/a
21	CHD2	chr11:65640917-65641390	Hela-S3	cervix:	n/a	n/a
22	CHD2	chr11:65640837-65641352	GM12878	blood:	n/a	n/a
23	CHD2	chr11:65641101-65641301	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr11:65640863-65641442	H1-hESC	embryonic stem cell:	n/a	n/a
25	CREB1	chr11:65640836-65641464	A549	lung:	n/a	n/a
26	CREB1	chr11:65640798-65641502	GM12878	blood:	n/a	n/a
27	CREB1	chr11:65640690-65641503	HepG2	liver:	n/a	n/a
28	CTBP2	chr11:65640955-65641390	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:65640960-65641110	AG04449	skin:	n/a	n/a
30	CTCF	chr11:65641635-65641662	Kidney_OC	kidney:	n/a	n/a
31	CTCF	chr11:65641005-65641090	GM19239	blood:	n/a	n/a
32	CTCF	chr11:65640995-65641317	Spleen_OC	spleen:	n/a	n/a
33	CTCF	chr11:65641026-65641048	MCF-7	breast:	n/a	n/a
34	CTCF	chr11:65641055-65641060	MCF-7	breast:	n/a	n/a
35	CTCF	chr11:65641048-65641275	Lung_OC	lung:	n/a	n/a
36	CTCF	chr11:65640520-65640670	AG09319	gingival:	n/a	n/a
37	CTCF	chr11:65641260-65641410	HUVEC	blood vessel:	n/a	n/a
38	E2F4	chr11:65640985-65641373	MCF10A-Er-Src	breast:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183
39	E2F4	chr11:65641055-65641309	GM12878	blood:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183
40	E2F6	chr11:65640917-65641423	K562	blood:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183 chr11:65641180-65641191
41	E2F6	chr11:65640973-65641435	H1-hESC	embryonic stem cell:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183 chr11:65641180-65641191
42	E2F6	chr11:65640957-65641395	K562	blood:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183 chr11:65641180-65641191
43	E2F6	chr11:65640772-65641484	A549	lung:	n/a	chr11:65641183-65641190 chr11:65641183-65641190 chr11:65641179-65641191 chr11:65641183-65641190 chr11:65641173-65641183 chr11:65641180-65641191
44	EBF1	chr11:65640884-65641437	GM12878	blood:	n/a	chr11:65641280-65641289
45	EBF1	chr11:65640856-65641438	GM12878	blood:	n/a	chr11:65641280-65641289
46	EBF1	chr11:65640776-65641452	GM12878	blood:	n/a	chr11:65641280-65641289
47	EGR1	chr11:65640895-65641324	GM12878	blood:	n/a	chr11:65641076-65641089 chr11:65641092-65641102 chr11:65640929-65640942 chr11:65641090-65641104 chr11:65641073-65641087
48	EGR1	chr11:65640960-65641183	GM12878	blood:	n/a	chr11:65641076-65641089 chr11:65641092-65641102 chr11:65641090-65641104 chr11:65641073-65641087
49	EGR1	chr11:65640810-65641444	MCF-7	breast:	n/a	chr11:65641076-65641089 chr11:65641092-65641102 chr11:65640929-65640942 chr11:65641090-65641104 chr11:65641073-65641087
50	EGR1	chr11:65639987-65640237	K562	blood:	n/a	chr11:65640165-65640174 chr11:65640063-65640073

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65641445-65641495	HEEpiC	esophagus:	n/a
2	chr11:65641445-65641495	HEEpiC	esophagus:	n/a
3	chr11:65640137-65640187	HCF	heart:	n/a
4	chr11:65640447-65640497	MCF-7	breast:	n/a
5	chr11:65641174-65641224	HMEC	breast:	n/a
6	chr11:65640516-65640566	Jurkat	blood:	n/a
7	chr11:65641043-65641093	GM06990	blood:	n/a
8	chr11:65640939-65640989	ProgFib	skin:	n/a
9	chr11:65640516-65640566	HCM	heart:	n/a
10	chr11:65643970-65644020	HMEC	breast:	n/a
11	chr11:65640516-65640566	GM12892	blood:	n/a
12	chr11:65641445-65641495	MCF10A-Er-Src	breast:	n/a
13	chr11:65641335-65641385	Hela-S3	cervix:	n/a
14	chr11:65640486-65640536	HNPCEpiC	eye:	n/a
15	chr11:65641445-65641495	NT2-D1	testis:	n/a
16	chr11:65641043-65641093	SK-N-SH	brain:	n/a
17	chr11:65640375-65640425	NT2-D1	testis:	n/a
18	chr11:65640486-65640536	HMEC	breast:	n/a
19	chr11:65641043-65641093	HCT-116	colon:	n/a
20	chr11:65640137-65640187	GM06990	blood:	n/a
21	chr11:65641445-65641495	ovcar-3	ovarian:	n/a
22	chr11:65640137-65640187	T-47D	breast:	n/a
23	chr11:65641335-65641385	NHBE	bronchial:	n/a
24	chr11:65640375-65640425	AG10803	skin:	n/a
25	chr11:65643970-65644020	Jurkat	blood:	n/a
26	chr11:65643970-65644020	HL-60	blood:	n/a
27	chr11:65640516-65640566	SK-N-SH_RA	brain:	n/a
28	chr11:65640939-65640989	HPAEpiC	pulmonary alveolar:	n/a
29	chr11:65641445-65641495	K562	blood:	n/a
30	chr11:65640375-65640425	HPAEpiC	pulmonary alveolar:	n/a
31	chr11:65640516-65640566	NHDF-neo	bronchial:	n/a
32	chr11:65641174-65641224	AG04449	skin:	fetal
33	chr11:65640447-65640497	SK-N-SH	brain:	n/a
34	chr11:65640375-65640425	HCM	heart:	n/a
35	chr11:65643970-65644020	GM12891	blood:	n/a
36	chr11:65640447-65640497	Caco-2	colon:	n/a
37	chr11:65641174-65641224	RPTEC	kidney:	n/a
38	chr11:65641445-65641495	HL-60	blood:	n/a
39	chr11:65641335-65641385	HRPEpiC	eye:	n/a
40	chr11:65641043-65641093	IMR90	lung:	fetal
41	chr11:65643970-65644020	HRPEpiC	eye:	n/a
42	chr11:65640447-65640497	A549	lung:	n/a
43	chr11:65640486-65640536	PrEC	prostate:	n/a
44	chr11:65641445-65641495	HPAEpiC	pulmonary alveolar:	n/a
45	chr11:65640939-65640989	AoSMC	blood vessel:	n/a
46	chr11:65640137-65640187	HCM	heart:	n/a
47	chr11:65640333-65640383	NH-A	brain:	n/a
48	chr11:65640447-65640497	ovcar-3	ovarian:	n/a
49	chr11:65643970-65644020	K562	blood:	n/a
50	chr11:65641445-65641495	Hepatocyte	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:65547235..65549033-chr11:65639667..65642031,2	K562	blood:
2	chr11:65478490..65481819-chr11:65637441..65641209,4	K562	blood:
3	chr11:65482061..65486231-chr11:65638918..65641829,3	K562	blood:
4	chr11:65639484..65641571-chr8:144697740..144699528,2	MCF-7	breast:
5	chr11:65638377..65641229-chr11:65727913..65730693,2	MCF-7	breast:
6	chr11:65627395..65628004-chr11:65640671..65641318,2	Hela-S3	cervix:
7	chr11:65640551..65642134-chr11:65685115..65687811,2	MCF-7	breast:
8	chr11:65642046..65643611-chr7:5563687..5566581,2	K562	blood:
9	chr11:65638895..65641565-chr11:65834356..65837225,2	K562	blood:
10	chr11:65640630..65641247-chr17:74733481..74734278,2	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CFL1-3	chr11:65640154-65640243	NONHSAT022239

Variant related genes	Relation type
CTSW	TF binding region
EFEMP2	TF binding region
CTSW	CpG island
EFEMP2	CpG island
ENSG00000255038	chromatin interactions
ENSG00000172732	chromatin interactions
ENSG00000175573	chromatin interactions
ENSG00000092931	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000172977	chromatin interactions
ENSG00000104522	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000175550	chromatin interactions
ENSG00000175467	chromatin interactions

Extended variants
information (count: 164 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:164 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537332916	chr11:65640107-65640108	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
2	rs2303384	chr11:65640204-65640205	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs576766502	chr11:65640257-65640258	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
4	rs188624478	chr11:65640259-65640260	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
5	rs551898840	chr11:65640424-65640425	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
6	rs539207528	chr11:65640459-65640460	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
7	rs2303385	chr11:65640562-65640563	Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs572313296	chr11:65640603-65640604	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
9	rs541191141	chr11:65640607-65640608	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
10	rs147927197	chr11:65640618-65640619	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
11	rs192670379	chr11:65640653-65640654	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs12796996	chr11:65640736-65640737	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs557010734	chr11:65640777-65640778	Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
14	rs574820863	chr11:65640817-65640818	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
15	rs567565174	chr11:65640847-65640848	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
16	rs11825610	chr11:65640887-65640888	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
17	rs532491540	chr11:65640898-65640899	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
18	rs7940691	chr11:65640906-65640907	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs569388347	chr11:65640979-65640980	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
20	rs559851955	chr11:65641001-65641002	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs553132972	chr11:65641024-65641025	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs10896064	chr11:65641033-65641034	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs548436174	chr11:65641039-65641040	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs141784747	chr11:65641043-65641044	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs558226253	chr11:65641050-65641051	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs536988077	chr11:65641072-65641073	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs550850398	chr11:65641076-65641077	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs183034646	chr11:65641085-65641086	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs539375982	chr11:65641111-65641112	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs35299699	chr11:65641133-65641134	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
31	rs187616780	chr11:65641159-65641160	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs574921295	chr11:65641165-65641166	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs558167	chr11:65641169-65641170	Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs2059410	chr11:65641232-65641233	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
35	rs543787988	chr11:65641277-65641278	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
36	rs535155179	chr11:65641284-65641285	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
37	rs554776807	chr11:65641304-65641305	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
38	rs574966311	chr11:65641312-65641313	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
39	rs543807986	chr11:65641329-65641330	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs563967344	chr11:65641357-65641358	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs577185992	chr11:65641368-65641369	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs560695159	chr11:65641378-65641379	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs559762528	chr11:65641411-65641412	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs376260029	chr11:65641416-65641417	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs528634030	chr11:65641417-65641418	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs112971520	chr11:65641496-65641497	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs561912491	chr11:65641507-65641508	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs7122843	chr11:65641518-65641519	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs111897528	chr11:65641549-65641550	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs370913748	chr11:65641555-65641556	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:461 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65633400-65640600	Weak transcription	Hela-S3	cervix
2	chr11:65633600-65640400	Weak transcription	HMEC	breast
3	chr11:65634800-65640400	Weak transcription	Primary T cells from cord blood	blood
4	chr11:65635200-65640400	Weak transcription	Dnd41	blood
5	chr11:65635600-65640600	Weak transcription	K562	blood
6	chr11:65635800-65640600	Weak transcription	A549	lung
7	chr11:65636200-65640400	Weak transcription	NHEK	skin
8	chr11:65637200-65640200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:65637400-65640400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:65637600-65640400	Enhancers	Primary B cells from cord blood	blood
11	chr11:65637800-65640400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr11:65638000-65640400	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:65638000-65640400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:65638200-65640400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr11:65638400-65640400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr11:65638600-65640200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:65638600-65640400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:65638800-65640400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:65638800-65640400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr11:65638800-65640400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:65639000-65640400	Weak transcription	Liver	Liver
22	chr11:65639200-65640400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:65639200-65640600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:65639200-65640600	Enhancers	Fetal Brain Male	brain
25	chr11:65639200-65641600	Active TSS	Brain Substantia Nigra	brain
26	chr11:65639400-65640400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr11:65639400-65640400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr11:65639400-65640400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr11:65639400-65640600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:65639400-65640600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:65639400-65640600	Active TSS	Brain Cingulate Gyrus	brain
32	chr11:65639400-65640600	Active TSS	Rectal Mucosa Donor 31	rectum
33	chr11:65639400-65640600	Active TSS	Osteobl	bone
34	chr11:65639400-65640800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:65639400-65641000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr11:65639400-65641400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr11:65639400-65641400	Active TSS	Aorta	Aorta
38	chr11:65639400-65641400	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr11:65639400-65641400	Active TSS	Fetal Kidney	kidney
40	chr11:65639400-65641600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:65639400-65641600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:65639400-65641600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:65639400-65641600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:65639400-65641600	Active TSS	Brain Angular Gyrus	brain
45	chr11:65639400-65641600	Active TSS	Right Atrium	heart
46	chr11:65639400-65641600	Active TSS	HSMM	muscle
47	chr11:65639400-65641600	Active TSS	NHDF-Ad	bronchial
48	chr11:65639600-65640200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr11:65639600-65640200	Weak transcription	GM12878-XiMat	blood
50	chr11:65639600-65640400	Active TSS	Brain Anterior Caudate	brain

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