Variant report

Variant	esv3338969
Chromosome Location	chr11:66609601-66612149
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	chr11:66610563-66611042	HepG2	liver:	n/a	n/a
2	ATF1	chr11:66610616-66611207	K562	blood:	n/a	chr11:66610863-66610877
3	ATF2	chr11:66610587-66611210	H1-hESC	embryonic stem cell:	n/a	chr11:66610863-66610877 chr11:66610865-66610876
4	ATF2	chr11:66610597-66611691	H1-hESC	embryonic stem cell:	n/a	chr11:66610863-66610877 chr11:66610865-66610876
5	ATF2	chr11:66610496-66611192	GM12878	blood:	n/a	chr11:66610863-66610877 chr11:66610865-66610876
6	ATF2	chr11:66610609-66611123	GM12878	blood:	n/a	chr11:66610863-66610877 chr11:66610865-66610876
7	ATF3	chr11:66610730-66611431	A549	lung:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
8	ATF3	chr11:66610755-66611050	GM12878	blood:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
9	ATF3	chr11:66610705-66611134	K562	blood:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
10	ATF3	chr11:66610695-66611096	HepG2	liver:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
11	ATF3	chr11:66610650-66611179	K562	blood:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
12	ATF3	chr11:66610686-66611112	GM12878	blood:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
13	ATF3	chr11:66610734-66611119	H1-hESC	embryonic stem cell:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
14	ATF3	chr11:66610665-66611099	K562	blood:	n/a	chr11:66610865-66610876 chr11:66610867-66610878 chr11:66610863-66610876 chr11:66610864-66610877 chr11:66610891-66610911 chr11:66610865-66610876 chr11:66610867-66610875 chr11:66610855-66610875 chr11:66610864-66610875 chr11:66610866-66610877 chr11:66610867-66610874 chr11:66610866-66610886 chr11:66610864-66610877
15	BACH1	chr11:66610582-66610868	H1-hESC	embryonic stem cell:	n/a	n/a
16	BATF	chr11:66610775-66611050	GM12878	blood:	n/a	n/a
17	BCL3	chr11:66610385-66612034	A549	lung:	n/a	chr11:66610853-66610866 chr11:66611143-66611156
18	BCL3	chr11:66610401-66611390	GM12878	blood:	n/a	chr11:66610853-66610866 chr11:66611143-66611156
19	BCL3	chr11:66610399-66613403	A549	lung:	n/a	chr11:66610853-66610866 chr11:66611143-66611156
20	BCL3	chr11:66610851-66611224	K562	blood:	n/a	chr11:66610853-66610866 chr11:66611143-66611156
21	BCL3	chr11:66610603-66611409	K562	blood:	n/a	chr11:66610853-66610866 chr11:66611143-66611156
22	BCLAF1	chr11:66610252-66611196	GM12878	blood:	n/a	chr11:66610853-66610866 chr11:66611143-66611156
23	BHLHE40	chr11:66610529-66611071	GM12878	blood:	n/a	chr11:66610588-66610604
24	BHLHE40	chr11:66610596-66611293	K562	blood:	n/a	chr11:66611189-66611205
25	BRCA1	chr11:66610722-66611097	H1-hESC	embryonic stem cell:	n/a	n/a
26	BRCA1	chr11:66610735-66611084	HepG2	liver:	n/a	n/a
27	BRCA1	chr11:66610506-66611073	Hela-S3	cervix:	n/a	n/a
28	BRCA1	chr11:66610550-66611001	GM12878	blood:	n/a	n/a
29	CBX3	chr11:66610579-66611078	K562	blood:	n/a	n/a
30	CCNT2	chr11:66610328-66611329	K562	blood:	n/a	n/a
31	CEBPB	chr11:66610876-66611012	HepG2	liver:	n/a	n/a
32	CEBPB	chr11:66610790-66610990	K562	blood:	n/a	n/a
33	CEBPB	chr11:66610762-66610922	HepG2	liver:	n/a	n/a
34	CEBPB	chr11:66610709-66611266	HepG2	liver:	n/a	n/a
35	CEBPB	chr11:66610825-66611042	A549	lung:	n/a	n/a
36	CEBPB	chr11:66610700-66611046	Hela-S3	cervix:	n/a	n/a
37	CEBPD	chr11:66610521-66611045	HepG2	liver:	n/a	n/a
38	CEBPD	chr11:66610798-66611051	HepG2	liver:	n/a	n/a
39	CHD1	chr11:66611442-66611444	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD1	chr11:66610768-66611150	H1-hESC	embryonic stem cell:	n/a	n/a
41	CHD1	chr11:66609850-66609882	GM12878	blood:	n/a	n/a
42	CHD1	chr11:66611498-66611500	GM12878	blood:	n/a	n/a
43	CHD1	chr11:66610165-66610974	GM12878	blood:	n/a	n/a
44	CHD1	chr11:66609829-66611810	IMR90	lung:	n/a	n/a
45	CHD2	chr11:66610534-66611383	K562	blood:	n/a	n/a
46	CHD2	chr11:66610327-66611426	GM12878	blood:	n/a	n/a
47	CHD2	chr11:66610652-66611123	HepG2	liver:	n/a	n/a
48	CHD2	chr11:66609884-66609907	GM12878	blood:	n/a	n/a
49	CHD2	chr11:66610632-66611319	H1-hESC	embryonic stem cell:	n/a	n/a
50	CHD2	chr11:66610400-66610425	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66610708-66610758	BJ	skin:	n/a
2	chr11:66610720-66610770	T-47D	breast:	n/a
3	chr11:66611485-66611535	AG09319	gingival:	n/a
4	chr11:66610592-66610642	K562	blood:	n/a
5	chr11:66610592-66610642	HEEpiC	esophagus:	n/a
6	chr11:66610782-66610832	HL-60	blood:	n/a
7	chr11:66610747-66610797	SKMC	muscle:	n/a
8	chr11:66610720-66610770	NT2-D1	testis:	n/a
9	chr11:66610747-66610797	CMK	blood:	n/a
10	chr11:66610747-66610797	HEK293	kidney:	embryo
11	chr11:66610782-66610832	HRPEpiC	eye:	n/a
12	chr11:66610708-66610758	AG04449	skin:	fetal
13	chr11:66610747-66610797	HEEpiC	esophagus:	n/a
14	chr11:66611241-66611291	AoSMC	blood vessel:	n/a
15	chr11:66610236-66610286	PrEC	prostate:	n/a
16	chr11:66610782-66610832	IMR90	lung:	fetal
17	chr11:66610784-66610834	HRCEpiC	kidney:	n/a
18	chr11:66610236-66610286	IMR90	lung:	fetal
19	chr11:66610763-66610813	NB4	blood:	n/a
20	chr11:66610763-66610813	A549	lung:	n/a
21	chr11:66610597-66610647	GM06990	blood:	n/a
22	chr11:66610747-66610797	HUVEC	blood vessel:	n/a
23	chr11:66610784-66610834	NB4	blood:	n/a
24	chr11:66611485-66611535	HMEC	breast:	n/a
25	chr11:66611485-66611535	GM12878	blood:	n/a
26	chr11:66610236-66610286	HCM	heart:	n/a
27	chr11:66610784-66610834	AG09309	skin:	n/a
28	chr11:66610592-66610642	Hela-S3	cervix:	n/a
29	chr11:66610747-66610797	BE2_C	brain:	n/a
30	chr11:66610747-66610797	HNPCEpiC	eye:	n/a
31	chr11:66610236-66610286	HCPEpiC	choroid plexus:	n/a
32	chr11:66610763-66610813	HUVEC	blood vessel:	n/a
33	chr11:66610763-66610813	HNPCEpiC	eye:	n/a
34	chr11:66611241-66611291	PrEC	prostate:	n/a
35	chr11:66611241-66611291	HEEpiC	esophagus:	n/a
36	chr11:66610597-66610647	T-47D	breast:	n/a
37	chr11:66610747-66610797	AG04450	lung:	fetal
38	chr11:66611485-66611535	GM06990	blood:	n/a
39	chr11:66610720-66610770	ovcar-3	ovarian:	n/a
40	chr11:66610592-66610642	GM12878	blood:	n/a
41	chr11:66611241-66611291	H1-hESC	embryonic stem cell:	embryo
42	chr11:66610592-66610642	SK-N-SH_RA	brain:	n/a
43	chr11:66610236-66610286	NB4	blood:	n/a
44	chr11:66610763-66610813	K562	blood:	n/a
45	chr11:66610747-66610797	GM12878	blood:	n/a
46	chr11:66610747-66610797	HepG2	liver:	n/a
47	chr11:66610782-66610832	HCT-116	colon:	n/a
48	chr11:66610597-66610647	AG04449	skin:	fetal
49	chr11:66610763-66610813	HRPEpiC	eye:	n/a
50	chr11:66610763-66610813	AG04449	skin:	fetal

No.	Distal block	Cell Line	Cell type
1	chr11:66510950..66513951-chr11:66609441..66612389,4	MCF-7	breast:
2	chr11:66382897..66385636-chr11:66609327..66612725,4	MCF-7	breast:
3	chr11:66610397..66611005-chr2:97303824..97304693,2	Hela-S3	cervix:
4	chr11:66382834..66385976-chr11:66609299..66612112,4	MCF-7	breast:
5	chr11:66607553..66610979-chr11:66790122..66792121,3	MCF-7	breast:
6	chr11:66404049..66406988-chr11:66609291..66612357,4	MCF-7	breast:
7	chr11:66444643..66447365-chr11:66608477..66611039,2	MCF-7	breast:
8	chr11:66610368..66612581-chr11:66793604..66796937,3	MCF-7	breast:
9	chr11:66610514..66611142-chr5:139682303..139683096,2	Hela-S3	cervix:
10	chr11:66610316..66610984-chr13:26795927..26796516,2	NB4	blood:
11	chr11:66609696..66614934-chr11:66722798..66726985,5	K562	blood:
12	chr11:66610361..66610995-chr14:75760837..75761676,2	HCT-116	colon:
13	chr11:66588753..66591298-chr11:66609854..66611938,2	MCF-7	breast:
14	chr1:109642397..109642939-chr11:66610097..66610939,2	Hela-S3	cervix:
15	chr11:66612074..66613943-chr11:66749013..66751834,2	MCF-7	breast:
16	chr11:66610605..66611247-chr5:118604315..118604831,2	Hela-S3	cervix:
17	chr11:66609254..66612019-chr11:66742000..66745352,5	MCF-7	breast:
18	chr11:66610287..66613457-chr11:66821215..66824724,5	MCF-7	breast:
19	chr11:66608006..66612050-chr11:66789663..66791972,5	MCF-7	breast:
20	chr11:66516509..66519400-chr11:66611915..66614317,2	MCF-7	breast:
21	chr1:40626701..40627562-chr11:66610304..66610866,2	Hela-S3	cervix:
22	chr11:66443889..66447498-chr11:66608460..66612257,3	K562	blood:
23	chr11:66607838..66611911-chr11:66724380..66727140,5	MCF-7	breast:
24	chr11:66510705..66512695-chr11:66610882..66612443,2	K562	blood:
25	chr11:66486907..66489706-chr11:66608896..66612610,3	MCF-7	breast:
26	chr11:66457271..66460204-chr11:66608971..66610490,2	MCF-7	breast:
27	chr11:66610034..66612192-chr11:67054679..67057615,2	MCF-7	breast:
28	chr11:66610684..66612474-chr11:66725360..66727374,2	MCF-7	breast:
29	chr11:66495041..66496665-chr11:66610806..66613641,2	K562	blood:
30	chr11:66610325..66612504-chr12:53441243..53443026,2	MCF-7	breast:
31	chr11:66608342..66609990-chr11:66741833..66743804,2	K562	blood:
32	chr11:66232704..66235668-chr11:66609805..66612233,2	MCF-7	breast:
33	chr11:66240024..66242825-chr11:66609200..66612137,2	MCF-7	breast:
34	chr11:66609744..66612707-chr12:120727053..120729795,2	MCF-7	breast:
35	chr11:66587872..66589833-chr11:66608211..66610611,2	K562	blood:
36	chr11:66443889..66445680-chr11:66609374..66612463,3	K562	blood:
37	chr11:66610071..66611807-chr11:66762959..66765909,2	MCF-7	breast:
38	chr11:66610398..66611087-chr5:177631492..177632244,2	Hela-S3	cervix:
39	chr11:66611767..66613930-chr11:66642493..66645277,2	MCF-7	breast:
40	chr1:38273030..38274030-chr11:66610360..66610899,2	Hela-S3	cervix:
41	chr11:66410966..66412972-chr11:66609483..66612002,2	MCF-7	breast:

Variant related genes	Relation type
RCE1	TF binding region
RCE1	CpG island
ENSG00000117000	chromatin interactions
ENSG00000173715	chromatin interactions
ENSG00000196449	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000127870	chromatin interactions
ENSG00000270066	chromatin interactions
ENSG00000248643	chromatin interactions
ENSG00000174547	chromatin interactions
ENSG00000114982	chromatin interactions
ENSG00000259687	chromatin interactions
ENSG00000173599	chromatin interactions
ENSG00000239306	chromatin interactions
ENSG00000173156	chromatin interactions
ENSG00000172932	chromatin interactions
ENSG00000174516	chromatin interactions
ENSG00000173237	chromatin interactions
ENSG00000197982	chromatin interactions
ENSG00000113068	chromatin interactions
ENSG00000173914	chromatin interactions
ENSG00000145779	chromatin interactions
ENSG00000173227	chromatin interactions
ENSG00000255517	chromatin interactions
ENSG00000173898	chromatin interactions
ENSG00000173933	chromatin interactions
ENSG00000111077	chromatin interactions
ENSG00000197451	chromatin interactions
ENSG00000252709	chromatin interactions
ENSG00000119660	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12224919	chr11:66609627-66609628	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
2	rs181681463	chr11:66609635-66609636	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs549963407	chr11:66609710-66609711	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs117487491	chr11:66609739-66609740	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs115858625	chr11:66609752-66609753	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
6	rs573207270	chr11:66609760-66609761	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs535888321	chr11:66609803-66609804	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs555466226	chr11:66609838-66609839	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
9	rs562786798	chr11:66609911-66609912	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
10	rs575528220	chr11:66609944-66609945	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
11	rs116235511	chr11:66609971-66609972	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
12	rs564004657	chr11:66609985-66609986	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
13	rs533325838	chr11:66609993-66609994	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs545424817	chr11:66610044-66610045	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
15	rs577425446	chr11:66610070-66610071	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
16	rs186694213	chr11:66610077-66610078	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
17	rs527776576	chr11:66610135-66610136	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
18	rs560238996	chr11:66610243-66610244	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
19	rs528969317	chr11:66610279-66610280	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 gene(s)	Overlapped CNVs	n/a
20	rs201806114	chr11:66610291-66610292	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
21	rs372340781	chr11:66610316-66610317	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	20 gene(s)	Overlapped CNVs	n/a
22	rs191544341	chr11:66610342-66610343	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
23	rs371499776	chr11:66610355-66610356	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	21 gene(s)	Overlapped CNVs	n/a
24	rs562320772	chr11:66610364-66610365	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
25	rs531302385	chr11:66610378-66610379	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	25 gene(s)	Overlapped CNVs	n/a
26	rs200048907	chr11:66610418-66610419	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
27	rs182870131	chr11:66610446-66610447	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
28	rs3188254	chr11:66610464-66610465	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
29	rs533570977	chr11:66610483-66610484	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
30	rs369989753	chr11:66610492-66610493	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
31	rs561266928	chr11:66610553-66610554	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
32	rs566996819	chr11:66610564-66610565	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
33	rs535562833	chr11:66610571-66610572	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
34	rs555761287	chr11:66610592-66610593	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
35	rs372414199	chr11:66610609-66610610	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
36	rs200760475	chr11:66610617-66610618	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
37	rs569179550	chr11:66610620-66610621	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
38	rs537806721	chr11:66610623-66610624	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
39	rs554223868	chr11:66610624-66610625	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
40	rs577511307	chr11:66610637-66610638	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
41	rs7570	chr11:66610645-66610646	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs553668732	chr11:66610739-66610740	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
43	rs369309313	chr11:66610743-66610744	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
44	rs542376480	chr11:66610755-66610756	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
45	rs562572176	chr11:66610756-66610757	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
46	rs531345783	chr11:66610767-66610768	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
47	rs544976376	chr11:66610781-66610782	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
48	rs564819251	chr11:66610784-66610785	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
49	rs200116865	chr11:66610823-66610824	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a
50	rs71045967	chr11:66610830-66610831	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	29 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Acute myeloid leukemia	21251322	CNVD
Lung cancer	19153074	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:496 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66567000-66609800	Weak transcription	Ovary	ovary
2	chr11:66576000-66609800	Weak transcription	Aorta	Aorta
3	chr11:66581200-66609800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:66607600-66609800	Enhancers	Pancreas	Pancrea
5	chr11:66608000-66609800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:66608000-66609800	Weak transcription	Lung	lung
7	chr11:66608200-66609800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr11:66608800-66610600	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr11:66609000-66609800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:66609000-66609800	Enhancers	Placenta	Placenta
11	chr11:66609000-66610000	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr11:66609000-66610000	Flanking Active TSS	GM12878-XiMat	blood
13	chr11:66609000-66610000	Transcr. at gene 5' and 3'	K562	blood
14	chr11:66609000-66610200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr11:66609200-66609800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr11:66609200-66609800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:66609200-66609800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr11:66609200-66609800	Enhancers	Fetal Muscle Trunk	muscle
19	chr11:66609200-66610000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:66609200-66610000	Flanking Active TSS	Thymus	Thymus
21	chr11:66609200-66610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:66609200-66610200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr11:66609200-66610200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr11:66609200-66610200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr11:66609200-66610400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr11:66609200-66610400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr11:66609200-66610400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:66609200-66610600	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr11:66609400-66609800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
30	chr11:66609400-66609800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:66609400-66609800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
32	chr11:66609400-66609800	Flanking Active TSS	HSMM	muscle
33	chr11:66609400-66609800	Transcr. at gene 5' and 3'	NHEK	skin
34	chr11:66609400-66610000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:66609400-66610000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:66609400-66610000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr11:66609400-66610000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:66609400-66610000	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr11:66609400-66610000	Enhancers	Small Intestine	intestine
40	chr11:66609400-66610000	Enhancers	Spleen	Spleen
41	chr11:66609400-66610000	Transcr. at gene 5' and 3'	A549	lung
42	chr11:66609400-66610200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:66609400-66610200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:66609400-66610200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:66609400-66610200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr11:66609400-66610200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr11:66609400-66610200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:66609400-66610200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr11:66609400-66610200	Flanking Active TSS	Brain Hippocampus Middle	brain
50	chr11:66609400-66610200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum

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