Variant report

Variant	esv3371829
Chromosome Location	chr11:64108901-64111749
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:597)
CpG islands
(count:488)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:597 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:64109867-64110157	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr11:64110643-64110839	K562	blood:	n/a	n/a
3	BHLHE40	chr11:64109847-64110235	K562	blood:	n/a	n/a
4	BRCA1	chr11:64109886-64110172	H1-hESC	embryonic stem cell:	n/a	n/a
5	BRCA1	chr11:64109942-64110279	Hela-S3	cervix:	n/a	n/a
6	CBX3	chr11:64109747-64110298	K562	blood:	n/a	n/a
7	CCNT2	chr11:64109118-64109141	K562	blood:	n/a	n/a
8	CCNT2	chr11:64109507-64110283	K562	blood:	n/a	chr11:64109713-64109722
9	CEBPB	chr11:64109160-64109428	K562	blood:	n/a	chr11:64109275-64109286
10	CEBPB	chr11:64109948-64110065	H1-hESC	embryonic stem cell:	n/a	n/a
11	CEBPB	chr11:64109959-64110215	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr11:64109251-64109375	HepG2	liver:	n/a	chr11:64109275-64109286
13	CEBPB	chr11:64109341-64109348	IMR90	lung:	n/a	n/a
14	CHD2	chr11:64109944-64110047	HepG2	liver:	n/a	n/a
15	CHD2	chr11:64109908-64110186	K562	blood:	n/a	chr11:64110174-64110184
16	CHD2	chr11:64109919-64110132	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD2	chr11:64109713-64110306	Hela-S3	cervix:	n/a	chr11:64110174-64110184
18	CREB1	chr11:64109875-64110311	A549	lung:	n/a	n/a
19	CREB1	chr11:64111248-64111584	A549	lung:	n/a	n/a
20	CTCF	chr11:64109980-64110130	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr11:64111380-64111530	HCT-116	colon:	n/a	n/a
22	CTCF	chr11:64109811-64110195	Fibrobl	skin:	n/a	n/a
23	CTCF	chr11:64109960-64110110	GM12873	blood:	n/a	n/a
24	CTCF	chr11:64109960-64110110	GM12867	blood:	n/a	n/a
25	CTCF	chr11:64111380-64111530	HMEC	breast:	n/a	n/a
26	CTCF	chr11:64109800-64109950	GM06990	blood:	n/a	n/a
27	CTCF	chr11:64110000-64110150	HUVEC	blood vessel:	n/a	n/a
28	CTCF	chr11:64111320-64111470	GM12872	blood:	n/a	n/a
29	CTCF	chr11:64109900-64110050	WI-38	lung:	n/a	n/a
30	CTCF	chr11:64110040-64110190	HCT-116	colon:	n/a	n/a
31	CTCF	chr11:64110060-64110210	GM06990	blood:	n/a	chr11:64110186-64110199
32	CTCF	chr11:64110040-64110190	HFF	foreskin:	n/a	n/a
33	CTCF	chr11:64109940-64110090	AG09309	skin:	n/a	n/a
34	CTCF	chr11:64110000-64110150	HL-60	blood:	n/a	n/a
35	CTCF	chr11:64111400-64111550	SAEC	small airway:	n/a	n/a
36	CTCF	chr11:64109800-64109950	RPTEC	kidney:	n/a	n/a
37	CTCF	chr11:64110000-64110150	GM12871	blood:	n/a	n/a
38	CTCF	chr11:64109831-64110213	HepG2	liver:	n/a	chr11:64110186-64110199
39	CTCF	chr11:64111380-64111591	A549	lung:	n/a	n/a
40	CTCF	chr11:64109520-64109670	GM12866	blood:	n/a	n/a
41	CTCF	chr11:64110020-64110170	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr11:64109973-64110177	GM12878	blood:	n/a	n/a
43	CTCF	chr11:64111400-64111550	GM12873	blood:	n/a	n/a
44	CTCF	chr11:64111360-64111510	HA-sp	spinal cord:	n/a	n/a
45	CTCF	chr11:64111355-64111590	HepG2	liver:	n/a	n/a
46	CTCF	chr11:64111400-64111550	AG09309	skin:	n/a	n/a
47	CTCF	chr11:64109920-64110070	AG04450	lung:	n/a	n/a
48	CTCF	chr11:64111420-64111570	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr11:64111320-64111470	AG04450	lung:	n/a	n/a
50	CTCF	chr11:64111435-64111541	GM20000	blood:	n/a	n/a

(count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64110178-64110228	GM06990	blood:	n/a
2	chr11:64109021-64109071	CMK	blood:	n/a
3	chr11:64109021-64109071	HMEC	breast:	n/a
4	chr11:64109158-64109208	HRCEpiC	kidney:	n/a
5	chr11:64109021-64109071	Hela-S3	cervix:	n/a
6	chr11:64110178-64110228	T-47D	breast:	n/a
7	chr11:64109021-64109071	AG10803	skin:	n/a
8	chr11:64110178-64110228	SK-N-SH_RA	brain:	n/a
9	chr11:64109021-64109071	HIPEpiC	eye:	n/a
10	chr11:64109158-64109208	SK-N-MC	brain:	n/a
11	chr11:64109823-64109873	MCF-7	breast:	n/a
12	chr11:64110178-64110228	AG04449	skin:	fetal
13	chr11:64110178-64110228	NT2-D1	testis:	n/a
14	chr11:64110785-64110835	HEK293	kidney:	embryo
15	chr11:64110731-64110781	H1-hESC	embryonic stem cell:	embryo
16	chr11:64110657-64110707	PrEC	prostate:	n/a
17	chr11:64110731-64110781	K562	blood:	n/a
18	chr11:64110731-64110781	T-47D	breast:	n/a
19	chr11:64110657-64110707	ovcar-3	ovarian:	n/a
20	chr11:64109021-64109071	IMR90	lung:	fetal
21	chr11:64110731-64110781	SAEC	small airway:	n/a
22	chr11:64110785-64110835	GM12878	blood:	n/a
23	chr11:64109021-64109071	SK-N-MC	brain:	n/a
24	chr11:64109021-64109071	HRPEpiC	eye:	n/a
25	chr11:64109823-64109873	NT2-D1	testis:	n/a
26	chr11:64109823-64109873	HRPEpiC	eye:	n/a
27	chr11:64109021-64109071	HL-60	blood:	n/a
28	chr11:64109823-64109873	GM12892	blood:	n/a
29	chr11:64110785-64110835	ProgFib	skin:	n/a
30	chr11:64110657-64110707	NHBE	bronchial:	n/a
31	chr11:64110785-64110835	HepG2	liver:	n/a
32	chr11:64110731-64110781	NH-A	brain:	n/a
33	chr11:64109158-64109208	A549	lung:	n/a
34	chr11:64109158-64109208	HIPEpiC	eye:	n/a
35	chr11:64110731-64110781	Hela-S3	cervix:	n/a
36	chr11:64108902-64108952	HCPEpiC	choroid plexus:	n/a
37	chr11:64109823-64109873	LNCaP	prostate:	n/a
38	chr11:64110657-64110707	HEK293	kidney:	embryo
39	chr11:64108902-64108952	HUVEC	blood vessel:	n/a
40	chr11:64110657-64110707	HL-60	blood:	n/a
41	chr11:64109158-64109208	SKMC	muscle:	n/a
42	chr11:64110657-64110707	H1-hESC	embryonic stem cell:	embryo
43	chr11:64110731-64110781	HepG2	liver:	n/a
44	chr11:64109823-64109873	PANC-1	pancreas:	n/a
45	chr11:64108902-64108952	HNPCEpiC	eye:	n/a
46	chr11:64110657-64110707	MCF-7	breast:	n/a
47	chr11:64109158-64109208	GM06990	blood:	n/a
48	chr11:64110178-64110228	MCF-7	breast:	n/a
49	chr11:64109823-64109873	HUVEC	blood vessel:	n/a
50	chr11:64108902-64108952	K562	blood:	n/a

(count:31 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
2	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
3	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
4	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
5	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
6	chr11:64109688..64110714-chr11:64122196..64123136,4	MCF-7	breast:
7	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
8	chr11:64012324..64016807-chr11:64110478..64112580,4	MCF-7	breast:
9	chr11:64109881..64112376-chr11:64133926..64136409,3	K562	blood:
10	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
11	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
12	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
13	chr11:64109644..64110611-chr6:2999990..3000529,2	Hela-S3	cervix:
14	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
15	chr11:64110456..64113002-chr11:64125236..64127679,2	MCF-7	breast:
16	chr11:64073471..64074042-chr11:64111429..64111971,2	MCF-7	breast:
17	chr11:64109596..64110152-chr19:11492123..11492864,2	Hela-S3	cervix:
18	chr11:64006889..64009385-chr11:64105672..64108941,3	K562	blood:
19	chr11:64109734..64110285-chr11:64215936..64216556,2	MCF-7	breast:
20	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:
21	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
22	chr11:64109881..64111855-chr11:64133926..64136409,2	K562	blood:
23	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
24	chr10:74450774..74453542-chr11:64109200..64111337,2	MCF-7	breast:
25	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
26	chr11:64109671..64110552-chr11:64122307..64123186,2	K562	blood:
27	chr11:63932620..63934152-chr11:64110470..64112736,2	MCF-7	breast:
28	chr11:64111304..64115119-chr11:64121660..64123596,3	MCF-7	breast:
29	chr11:63984496..63987106-chr11:64110759..64113104,2	K562	blood:
30	chr11:64111712..64113381-chr11:64202225..64203950,2	MCF-7	breast:
31	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7155-3p	chr11:64109321-64109339	MIMAT0028221
hsa-miR-7155-5p	chr11:64109358-64109376	MIMAT0028220

No data

Variant related genes	Relation type
CCDC88B	TF binding region
CCDC88B	CpG island
ENSG00000173486	chromatin interactions
ENSG00000181908	chromatin interactions
ENSG00000126432	chromatin interactions
ENSG00000173113	chromatin interactions
ENSG00000124588	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000256116	chromatin interactions
ENSG00000173511	chromatin interactions
ENSG00000173457	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000173264	chromatin interactions
ENSG00000221273	chromatin interactions
ENSG00000156026	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000149781	chromatin interactions
ENSG00000256940	chromatin interactions
ENSG00000173153	chromatin interactions

Extended variants
information (count: 152 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs199674677	chr11:64108918-64108919	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
2	rs377292763	chr11:64108943-64108944	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
3	rs150457686	chr11:64108956-64108957	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
4	rs201265638	chr11:64108971-64108972	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs578081356	chr11:64108977-64108978	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs370989286	chr11:64109024-64109025	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
7	rs556067934	chr11:64109036-64109037	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
8	rs375096255	chr11:64109054-64109055	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
9	rs200711256	chr11:64109060-64109061	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
10	rs201011301	chr11:64109063-64109064	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
11	rs200216096	chr11:64109066-64109067	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
12	rs142786551	chr11:64109071-64109072	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
13	rs367964927	chr11:64109082-64109083	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
14	rs138265263	chr11:64109098-64109099	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
15	rs143094813	chr11:64109116-64109117	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
16	rs647152	chr11:64109118-64109119	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs563193264	chr11:64109131-64109132	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
18	rs532027601	chr11:64109142-64109143	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
19	rs139000172	chr11:64109148-64109149	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
20	rs141970879	chr11:64109158-64109159	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
21	rs79183699	chr11:64109160-64109161	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
22	rs372217739	chr11:64109180-64109181	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
23	rs191336693	chr11:64109187-64109188	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
24	rs367832758	chr11:64109192-64109193	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
25	rs61735121	chr11:64109208-64109209	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs372654482	chr11:64109227-64109228	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs529852829	chr11:64109229-64109230	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs375914174	chr11:64109257-64109258	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs549548519	chr11:64109281-64109282	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs569639786	chr11:64109293-64109294	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
31	rs184592238	chr11:64109305-64109306	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
32	rs558172037	chr11:64109322-64109323	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region miRNA	14 gene(s)	Overlapped CNVs	n/a
33	rs201049666	chr11:64109395-64109396	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
34	rs201623170	chr11:64109421-64109422	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
35	rs371949923	chr11:64109432-64109433	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
36	rs375252275	chr11:64109434-64109435	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
37	rs199673065	chr11:64109458-64109459	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
38	rs142869340	chr11:64109466-64109467	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
39	rs554328294	chr11:64109479-64109480	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
40	rs150573390	chr11:64109481-64109482	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
41	rs574148465	chr11:64109495-64109496	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
42	rs200877682	chr11:64109512-64109513	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
43	rs556773409	chr11:64109530-64109531	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
44	rs200595748	chr11:64109531-64109532	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
45	rs376901275	chr11:64109537-64109538	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
46	rs76302566	chr11:64109538-64109539	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
47	rs148469170	chr11:64109545-64109546	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
48	rs369059647	chr11:64109563-64109564	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
49	rs373780313	chr11:64109573-64109574	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
50	rs147856518	chr11:64109594-64109595	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:94)

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	21785460	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

Chromatin state (count:485 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64099800-64109600	Weak transcription	Liver	Liver
2	chr11:64100000-64109000	Weak transcription	Pancreas	Pancrea
3	chr11:64103000-64109600	Weak transcription	Right Atrium	heart
4	chr11:64103400-64109600	Weak transcription	NH-A	brain
5	chr11:64103800-64109400	Weak transcription	NHEK	skin
6	chr11:64106800-64109000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:64107000-64109000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr11:64107200-64109400	Active TSS	Rectal Smooth Muscle	rectum
10	chr11:64107200-64110000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
11	chr11:64107400-64109200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr11:64108000-64109000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr11:64108000-64109000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:64108000-64109000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:64108000-64109400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr11:64108000-64109400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr11:64108000-64109600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr11:64108000-64110400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr11:64108000-64110800	Enhancers	Lung	lung
20	chr11:64108200-64109000	Weak transcription	Brain Hippocampus Middle	brain
21	chr11:64108200-64109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:64108200-64109600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:64108200-64109600	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr11:64108200-64110200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:64108200-64111800	Enhancers	Placenta	Placenta
27	chr11:64108400-64109000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr11:64108400-64109200	Enhancers	Small Intestine	intestine
29	chr11:64108400-64109400	Enhancers	Gastric	stomach
30	chr11:64108400-64109400	Weak transcription	Right Ventricle	heart
31	chr11:64108400-64109600	Enhancers	Adipose Nuclei	Adipose
32	chr11:64108400-64109800	Flanking Active TSS	GM12878-XiMat	blood
33	chr11:64108400-64110000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
34	chr11:64108400-64110400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:64108600-64109000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
36	chr11:64108600-64109000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr11:64108600-64109000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:64108600-64109200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:64108600-64109400	Enhancers	Primary T cells from cord blood	blood
40	chr11:64108600-64109400	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:64108600-64109400	Weak transcription	Brain Substantia Nigra	brain
42	chr11:64108600-64109400	Enhancers	Hela-S3	cervix
43	chr11:64108600-64109600	Genic enhancers	Primary T cells fromperipheralblood	blood
44	chr11:64108600-64109600	Enhancers	Brain Anterior Caudate	brain
45	chr11:64108600-64109600	Enhancers	Duodenum Mucosa	Duodenum
46	chr11:64108600-64109600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
47	chr11:64108600-64109600	Bivalent Enhancer	Fetal Intestine Large	intestine
48	chr11:64108600-64109600	Bivalent Enhancer	Fetal Stomach	stomach
49	chr11:64108600-64109600	Enhancers	Stomach Mucosa	stomach
50	chr11:64108600-64109800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood

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