Variant report

Variant	esv3354601
Chromosome Location	chr11:75138904-75143302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:381)
CpG islands
(count:1100)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:381 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:75139279-75139495	HepG2	liver:	n/a	n/a
2	BACH1	chr11:75141002-75141723	H1-hESC	embryonic stem cell:	n/a	n/a
3	BHLHE40	chr11:75140889-75140992	GM12878	blood:	n/a	n/a
4	BRCA1	chr11:75141424-75141430	Hela-S3	cervix:	n/a	n/a
5	BRCA1	chr11:75141816-75142070	Hela-S3	cervix:	n/a	n/a
6	CHD2	chr11:75139398-75139588	HepG2	liver:	n/a	n/a
7	CHD2	chr11:75141476-75142135	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr11:75141198-75142427	Hela-S3	cervix:	n/a	n/a
9	CHD2	chr11:75140712-75141005	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr11:75139275-75139612	Hela-S3	cervix:	n/a	n/a
11	CREB1	chr11:75139197-75139812	HepG2	liver:	n/a	n/a
12	CREB1	chr11:75140820-75141725	A549	lung:	n/a	n/a
13	CREB1	chr11:75140652-75141836	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTCF	chr11:75143120-75143270	HCM	heart:	n/a	n/a
15	CTCF	chr11:75141700-75141740	MCF-7	breast:	n/a	n/a
16	CTCF	chr11:75141513-75141633	GM10248	blood:	n/a	n/a
17	CTCF	chr11:75143256-75143299	Fibrobl	skin:	n/a	n/a
18	CTCF	chr11:75143080-75143230	HAc	cerebellar:	n/a	n/a
19	CTCF	chr11:75141580-75141730	GM12867	blood:	n/a	n/a
20	CTCF	chr11:75143220-75143370	HFF	foreskin:	n/a	n/a
21	CTCF	chr11:75143200-75143350	RPTEC	kidney:	n/a	n/a
22	CTCF	chr11:75143108-75143367	K562	blood:	n/a	n/a
23	CTCF	chr11:75143180-75143330	HCPEpiC	choroid plexus:	n/a	n/a
24	CTCF	chr11:75141009-75141098	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr11:75141420-75141710	SK-N-SH_RA	brain:	n/a	n/a
26	CTCF	chr11:75141640-75141790	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr11:75140960-75141110	SAEC	small airway:	n/a	n/a
28	CTCF	chr11:75141660-75141810	HCPEpiC	choroid plexus:	n/a	n/a
29	CTCF	chr11:75141011-75141083	Spleen_OC	spleen:	n/a	n/a
30	CTCF	chr11:75141580-75141730	HAc	cerebellar:	n/a	n/a
31	CTCF	chr11:75141400-75141550	GM12865	blood:	n/a	n/a
32	CTCF	chr11:75140920-75141070	GM12868	blood:	n/a	n/a
33	CTCF	chr11:75143140-75143290	WERI-Rb-1	eye:	n/a	n/a
34	CTCF	chr11:75143117-75143505	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr11:75143200-75143350	Caco-2	colon:	n/a	n/a
36	CTCF	chr11:75140890-75141008	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr11:75143140-75143290	GM12872	blood:	n/a	n/a
38	CTCF	chr11:75141460-75141610	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr11:75141660-75141810	GM12873	blood:	n/a	n/a
40	CTCF	chr11:75140901-75141177	GM19238	blood:	n/a	n/a
41	CTCF	chr11:75140880-75141030	GM12869	blood:	n/a	n/a
42	CTCF	chr11:75143186-75143371	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr11:75140916-75140959	Pancreas_OC	pancreas:	n/a	n/a
44	CTCF	chr11:75143180-75143330	HEK293	kidney:	n/a	n/a
45	CTCF	chr11:75140994-75141001	Spleen_OC	spleen:	n/a	n/a
46	CTCF	chr11:75143140-75143290	MCF-7	breast:	n/a	n/a
47	CTCF	chr11:75143220-75143370	A549	lung:	n/a	n/a
48	CTCF	chr11:75141440-75141590	GM12868	blood:	n/a	n/a
49	CTCF	chr11:75140900-75141050	GM12864	blood:	n/a	n/a
50	CTCF	chr11:75141640-75141790	SK-N-SH_RA	brain:	n/a	n/a

(count:1100 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:75142449-75142499	HRPEpiC	eye:	n/a
2	chr11:75142449-75142499	CMK	blood:	n/a
3	chr11:75142449-75142499	HRPEpiC	eye:	n/a
4	chr11:75142449-75142499	CMK	blood:	n/a
5	chr11:75139680-75139730	SAEC	small airway:	n/a
6	chr11:75141627-75141677	GM12892	blood:	n/a
7	chr11:75142012-75142062	HUVEC	blood vessel:	n/a
8	chr11:75142012-75142062	BJ	skin:	n/a
9	chr11:75141835-75141885	PFSK-1	brain:	n/a
10	chr11:75142012-75142062	H1-hESC	embryonic stem cell:	embryo
11	chr11:75142012-75142062	A549	lung:	n/a
12	chr11:75140865-75140915	MCF10A-Er-Src	breast:	n/a
13	chr11:75142012-75142062	HEEpiC	esophagus:	n/a
14	chr11:75139390-75139440	NB4	blood:	n/a
15	chr11:75139390-75139440	MCF-7	breast:	n/a
16	chr11:75142012-75142062	SK-N-MC	brain:	n/a
17	chr11:75139390-75139440	NH-A	brain:	n/a
18	chr11:75141793-75141843	HCF	heart:	n/a
19	chr11:75141846-75141896	SK-N-SH	brain:	n/a
20	chr11:75139736-75139786	GM06990	blood:	n/a
21	chr11:75142012-75142062	HNPCEpiC	eye:	n/a
22	chr11:75142012-75142062	Hela-S3	cervix:	n/a
23	chr11:75139736-75139786	SK-N-MC	brain:	n/a
24	chr11:75141815-75141865	MCF10A-Er-Src	breast:	n/a
25	chr11:75139736-75139786	HL-60	blood:	n/a
26	chr11:75141627-75141677	HCM	heart:	n/a
27	chr11:75139544-75139594	HAEpiC	amniotic membrane:	n/a
28	chr11:75141835-75141885	PrEC	prostate:	n/a
29	chr11:75140541-75140591	PANC-1	pancreas:	n/a
30	chr11:75140681-75140731	GM06990	blood:	n/a
31	chr11:75140567-75140617	BE2_C	brain:	n/a
32	chr11:75140541-75140591	HepG2	liver:	n/a
33	chr11:75139390-75139440	GM06990	blood:	n/a
34	chr11:75139736-75139786	AG04449	skin:	fetal
35	chr11:75140567-75140617	BJ	skin:	n/a
36	chr11:75141735-75141785	NHDF-neo	bronchial:	n/a
37	chr11:75142449-75142499	HPAEpiC	pulmonary alveolar:	n/a
38	chr11:75139680-75139730	ProgFib	skin:	n/a
39	chr11:75141627-75141677	MCF-7	breast:	n/a
40	chr11:75141735-75141785	ovcar-3	ovarian:	n/a
41	chr11:75140567-75140617	IMR90	lung:	fetal
42	chr11:75139544-75139594	BE2_C	brain:	n/a
43	chr11:75139736-75139786	PANC-1	pancreas:	n/a
44	chr11:75139544-75139594	HUVEC	blood vessel:	n/a
45	chr11:75141735-75141785	HUVEC	blood vessel:	n/a
46	chr11:75139544-75139594	CMK	blood:	n/a
47	chr11:75139544-75139594	GM19239	blood:	n/a
48	chr11:75140681-75140731	HPAEpiC	pulmonary alveolar:	n/a
49	chr11:75142449-75142499	U87	brain:	n/a
50	chr11:75141835-75141885	Caco-2	colon:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:75110683..75112294-chr11:75142626..75145319,2	MCF-7	breast:
2	chr11:75137530..75143776-chr11:75234822..75239544,9	MCF-7	breast:
3	chr11:75140907..75141791-chr6:27114739..27115380,2	Hela-S3	cervix:
4	chr11:75081448..75083350-chr11:75141892..75143831,2	MCF-7	breast:
5	chr11:75141771..75142485-chr4:2538109..2538860,2	Hela-S3	cervix:
6	chr11:75136695..75138362-chr11:75139992..75142963,2	K562	blood:
7	chr11:75115551..75117959-chr11:75139316..75141039,2	K562	blood:
8	chr11:75141225..75141744-chr20:43976609..43977124,2	Hela-S3	cervix:
9	chr11:75139686..75143695-chr11:75147762..75151196,5	K562	blood:
10	chr11:75109502..75112547-chr11:75141371..75143241,3	K562	blood:
11	chr1:147806617..147807147-chr11:75140408..75141165,2	Hela-S3	cervix:
12	chr11:75109502..75112547-chr11:75141371..75144789,4	K562	blood:
13	chr1:229644154..229644759-chr11:75140868..75141602,2	Hela-S3	cervix:
14	chr11:75109916..75112430-chr11:75138205..75142577,6	MCF-7	breast:
15	chr11:75141213..75141791-chr6:116421902..116422557,2	Hela-S3	cervix:
16	chr11:75141246..75141914-chr17:35715699..35716679,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
KLHL35	TF binding region
KLHL35	CpG island
ENSG00000223635	chromatin interactions
ENSG00000184825	chromatin interactions
ENSG00000202408	chromatin interactions
ENSG00000178425	chromatin interactions
ENSG00000124145	chromatin interactions
ENSG00000206941	chromatin interactions
ENSG00000149243	chromatin interactions
ENSG00000132142	chromatin interactions
ENSG00000149273	chromatin interactions
ENSG00000158555	chromatin interactions

Extended variants
information (count: 186 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:186 , 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	rs149177779	chr11:75138921-75138922	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs149504623	chr11:75138938-75138939	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs371076105	chr11:75138957-75138958	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs559836731	chr11:75138992-75138993	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs528744346	chr11:75139012-75139013	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs551488398	chr11:75139013-75139014	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs548781926	chr11:75139025-75139026	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs540560553	chr11:75139029-75139030	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs35338159	chr11:75139040-75139041	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs537163572	chr11:75139063-75139064	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs144075186	chr11:75139092-75139093	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs567328012	chr11:75139141-75139142	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs567398570	chr11:75139156-75139157	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs535310505	chr11:75139200-75139201	Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs148264357	chr11:75139215-75139216	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs551590190	chr11:75139223-75139224	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs116089410	chr11:75139289-75139290	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs534867871	chr11:75139292-75139293	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs182666744	chr11:75139330-75139331	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs76749651	chr11:75139332-75139333	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs141349112	chr11:75139421-75139422	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs543422454	chr11:75139429-75139430	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs563422542	chr11:75139432-75139433	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573771793	chr11:75139435-75139436	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs375619083	chr11:75139468-75139469	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs187770079	chr11:75139472-75139473	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs371820830	chr11:75139478-75139479	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs377254998	chr11:75139486-75139487	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs552016419	chr11:75139503-75139504	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs201156914	chr11:75139511-75139512	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs374939539	chr11:75139512-75139513	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
32	rs565424293	chr11:75139534-75139535	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs530840856	chr11:75139575-75139576	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs368944964	chr11:75139580-75139581	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs372410929	chr11:75139595-75139596	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
36	rs138503029	chr11:75139631-75139632	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs375470750	chr11:75139646-75139647	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs550557063	chr11:75139647-75139648	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs369811415	chr11:75139666-75139667	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
40	rs567459790	chr11:75139679-75139680	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs530092979	chr11:75139683-75139684	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs201037060	chr11:75139687-75139688	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs370522341	chr11:75139749-75139750	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs565837396	chr11:75139750-75139751	Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs539340495	chr11:75139823-75139824	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs2508621	chr11:75139879-75139880	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs558063590	chr11:75139880-75139881	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs150603868	chr11:75139901-75139902	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs553144185	chr11:75139905-75139906	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs537086043	chr11:75139925-75139926	Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region Chromatin interactive region	4 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
Acute lymphoblastic leukemia	20435627	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Glioblastoma multiforme	21080181	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Melanoma	18172304	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
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
lymphocytic leukemia	21291569	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Breast cancer	16620391	CNVD
Multiple myeloma	17550852	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Cancer	22429812	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21482786	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	16608533	CNVD

Chromatin state (count:701 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75117400-75139000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr11:75118200-75139000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:75118200-75139600	Weak transcription	Small Intestine	intestine
4	chr11:75119400-75139800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:75123400-75140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:75123600-75139000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr11:75126200-75139400	Weak transcription	Esophagus	oesophagus
8	chr11:75126400-75139400	Weak transcription	Ovary	ovary
9	chr11:75126400-75139600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:75126400-75140600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr11:75126600-75139000	Weak transcription	Colon Smooth Muscle	Colon
12	chr11:75126600-75139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr11:75129400-75141200	Weak transcription	Aorta	Aorta
14	chr11:75130200-75139000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:75130400-75139000	Weak transcription	HMEC	breast
16	chr11:75131000-75139000	Weak transcription	NH-A	brain
17	chr11:75131200-75139400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr11:75131400-75139000	Weak transcription	NHLF	lung
19	chr11:75132000-75139000	Weak transcription	Hela-S3	cervix
20	chr11:75133800-75139000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:75134000-75139400	Weak transcription	Colonic Mucosa	Colon
22	chr11:75134000-75141000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:75134200-75139000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr11:75134200-75139000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr11:75134200-75139400	Weak transcription	Liver	Liver
26	chr11:75134200-75141400	Weak transcription	HSMMtube	muscle
27	chr11:75134600-75139000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:75134600-75139000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:75134600-75139000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr11:75134600-75139200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:75134600-75139400	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:75134600-75140800	Weak transcription	Gastric	stomach
33	chr11:75134800-75139000	Weak transcription	Brain Angular Gyrus	brain
34	chr11:75134800-75139000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:75134800-75139000	Weak transcription	K562	blood
36	chr11:75134800-75139200	Weak transcription	NHEK	skin
37	chr11:75135000-75139400	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:75135200-75139000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr11:75135200-75139000	Weak transcription	Placenta	Placenta
40	chr11:75135200-75139400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr11:75135200-75139400	Weak transcription	Lung	lung
42	chr11:75135200-75140400	Weak transcription	Spleen	Spleen
43	chr11:75135400-75139000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:75135400-75139000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:75135600-75139000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:75135800-75139000	Weak transcription	Brain Anterior Caudate	brain
47	chr11:75136200-75139400	Weak transcription	HSMM	muscle
48	chr11:75136400-75140200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr11:75136600-75139000	Weak transcription	Right Ventricle	heart
50	chr11:75137800-75139000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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