Variant report

Variant	esv3348182
Chromosome Location	chr11:65351726-65354024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:367)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr11:65352346-65352356	H1-hESC	embryonic stem cell:	n/a	n/a
2	CREB1	chr11:65352231-65352721	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr11:65353860-65354010	AG04449	skin:	n/a	n/a
4	EGR1	chr11:65352170-65352419	K562	blood:	n/a	chr11:65352299-65352309 chr11:65352296-65352311 chr11:65352297-65352310
5	EGR1	chr11:65352134-65352404	K562	blood:	n/a	chr11:65352299-65352309 chr11:65352296-65352311 chr11:65352297-65352310
6	GABPA	chr11:65352234-65352772	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr11:65354011-65354489	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr11:65352246-65352302	H1-hESC	embryonic stem cell:	n/a	n/a
9	PML	chr11:65353985-65354566	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:65351032-65352181	K562	blood:	n/a	n/a
11	POLR2A	chr11:65351534-65352063	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:65351596-65352085	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:65351236-65352110	HL-60	blood:	n/a	n/a
14	POLR2A	chr11:65353118-65353344	K562	blood:	n/a	n/a
15	POLR2A	chr11:65353003-65353078	K562	blood:	n/a	n/a
16	POLR2A	chr11:65351712-65352242	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr11:65351643-65351975	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr11:65351478-65352141	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:65351429-65352073	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:65352242-65352594	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:65352965-65353081	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:65351594-65352131	K562	blood:	n/a	n/a
23	POLR2A	chr11:65353084-65353148	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:65352255-65352713	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr11:65351400-65352091	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:65352201-65352470	K562	blood:	n/a	n/a
27	POLR2A	chr11:65353284-65353897	K562	blood:	n/a	n/a
28	POLR2A	chr11:65351696-65352035	K562	blood:	n/a	n/a
29	POLR2A	chr11:65353687-65353906	K562	blood:	n/a	n/a
30	POLR2A	chr11:65352197-65352609	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:65353046-65353279	K562	blood:	n/a	n/a
32	POLR2A	chr11:65351425-65352053	GM12878	blood:	n/a	n/a
33	RFX5	chr11:65352127-65352501	H1-hESC	embryonic stem cell:	n/a	chr11:65352311-65352320 chr11:65352248-65352264 chr11:65352247-65352261 chr11:65352249-65352263 chr11:65352310-65352324
34	RFX5	chr11:65353601-65354685	SK-N-SH	brain:	n/a	chr11:65354425-65354434
35	SIN3A	chr11:65352208-65352609	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF3	chr11:65352312-65352600	GM12878	blood:	n/a	n/a
37	ZBTB7A	chr11:65353132-65353238	K562	blood:	n/a	n/a

(count:367 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:65353092-65353142	NB4	blood:	n/a
2	chr11:65353092-65353142	NB4	blood:	n/a
3	chr11:65353416-65353466	HCF	heart:	n/a
4	chr11:65352327-65352377	MCF10A-Er-Src	breast:	n/a
5	chr11:65353416-65353466	HNPCEpiC	eye:	n/a
6	chr11:65352168-65352218	HRE	kidney:	n/a
7	chr11:65353416-65353466	NHBE	bronchial:	n/a
8	chr11:65352232-65352282	SK-N-MC	brain:	n/a
9	chr11:65352605-65352655	CMK	blood:	n/a
10	chr11:65352327-65352377	GM12891	blood:	n/a
11	chr11:65352327-65352377	AG09309	skin:	n/a
12	chr11:65353416-65353466	HIPEpiC	eye:	n/a
13	chr11:65352327-65352377	BJ	skin:	n/a
14	chr11:65352605-65352655	SK-N-MC	brain:	n/a
15	chr11:65353416-65353466	RPTEC	kidney:	n/a
16	chr11:65352232-65352282	ovcar-3	ovarian:	n/a
17	chr11:65352327-65352377	MCF-7	breast:	n/a
18	chr11:65352168-65352218	GM12892	blood:	n/a
19	chr11:65352327-65352377	HEEpiC	esophagus:	n/a
20	chr11:65352232-65352282	Jurkat	blood:	n/a
21	chr11:65353092-65353142	HRCEpiC	kidney:	n/a
22	chr11:65352605-65352655	BE2_C	brain:	n/a
23	chr11:65352232-65352282	Caco-2	colon:	n/a
24	chr11:65352605-65352655	HRCEpiC	kidney:	n/a
25	chr11:65353416-65353466	SKMC	muscle:	n/a
26	chr11:65352168-65352218	RPTEC	kidney:	n/a
27	chr11:65352168-65352218	U87	brain:	n/a
28	chr11:65352168-65352218	NHBE	bronchial:	n/a
29	chr11:65352327-65352377	AG04449	skin:	fetal
30	chr11:65352168-65352218	PFSK-1	brain:	n/a
31	chr11:65352168-65352218	HUVEC	blood vessel:	n/a
32	chr11:65352605-65352655	GM19239	blood:	n/a
33	chr11:65352232-65352282	ECC-1	luminal epithelium:	n/a
34	chr11:65353416-65353466	Jurkat	blood:	n/a
35	chr11:65352232-65352282	HNPCEpiC	eye:	n/a
36	chr11:65352232-65352282	HRCEpiC	kidney:	n/a
37	chr11:65352168-65352218	HCF	heart:	n/a
38	chr11:65352605-65352655	SK-N-SH	brain:	n/a
39	chr11:65352168-65352218	HEEpiC	esophagus:	n/a
40	chr11:65352168-65352218	HCM	heart:	n/a
41	chr11:65352605-65352655	K562	blood:	n/a
42	chr11:65353416-65353466	PFSK-1	brain:	n/a
43	chr11:65352605-65352655	U87	brain:	n/a
44	chr11:65352232-65352282	Hepatocyte	liver:	n/a
45	chr11:65352168-65352218	AoSMC	blood vessel:	n/a
46	chr11:65353416-65353466	AG10803	skin:	n/a
47	chr11:65352605-65352655	BJ	skin:	n/a
48	chr11:65353092-65353142	AG10803	skin:	n/a
49	chr11:65353416-65353466	H1-hESC	embryonic stem cell:	embryo
50	chr11:65352168-65352218	BE2_C	brain:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65351177..65356604-chr11:65359918..65365733,9	MCF-7	breast:
2	chr11:65189137..65192069-chr11:65349973..65352376,3	K562	blood:
3	chr11:65353894..65355674-chr11:65372897..65374654,2	MCF-7	breast:
4	chr11:65352248..65354145-chr11:66123101..66125713,2	K562	blood:
5	chr11:65353979..65355794-chr11:65410374..65412604,2	MCF-7	breast:

No data

Variant related genes	Relation type
EHBP1L1	TF binding region
EHBP1L1	CpG island
ENSG00000173327	chromatin interactions
ENSG00000173338	chromatin interactions
ENSG00000269018	chromatin interactions
ENSG00000245532	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374407678	chr11:65351753-65351754	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs377568011	chr11:65351759-65351760	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs201763965	chr11:65351779-65351780	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs370798461	chr11:65351786-65351787	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564127023	chr11:65351787-65351788	ZNF genes & repeats Genic enhancers Weak transcription Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs375189385	chr11:65351810-65351811	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs367938554	chr11:65351817-65351818	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs533123747	chr11:65351822-65351823	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs199564079	chr11:65351829-65351830	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs374072434	chr11:65351848-65351849	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs557321430	chr11:65351855-65351856	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs185664667	chr11:65351863-65351864	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs114727705	chr11:65351883-65351884	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs12224544	chr11:65351893-65351894	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs11227228	chr11:65351929-65351930	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373203446	chr11:65351947-65351948	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs34705071	chr11:65351962-65351963	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs371874855	chr11:65351967-65351968	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs376528326	chr11:65351969-65351970	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs549155607	chr11:65351987-65351988	Bivalent Enhancer ZNF genes & repeats Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs369106000	chr11:65352011-65352012	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs199502631	chr11:65352018-65352019	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs531620857	chr11:65352022-65352023	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs200349061	chr11:65352029-65352030	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs145946169	chr11:65352042-65352043	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs376925439	chr11:65352054-65352055	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs373584953	chr11:65352059-65352060	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs2298615	chr11:65352062-65352063	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs117753710	chr11:65352093-65352094	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs545016911	chr11:65352105-65352106	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs34004536	chr11:65352129-65352130	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs397848144	chr11:65352130-65352131	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs553498462	chr11:65352192-65352193	Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs138542756	chr11:65352209-65352210	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs536008296	chr11:65352218-65352219	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs188074974	chr11:65352220-65352221	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs555907233	chr11:65352227-65352228	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs575470243	chr11:65352233-65352234	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs544421264	chr11:65352253-65352254	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs180970944	chr11:65352263-65352264	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs2848735	chr11:65352373-65352374	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs371719317	chr11:65352384-65352385	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs577922511	chr11:65352392-65352393	Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs373476868	chr11:65352401-65352402	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs201744720	chr11:65352458-65352459	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs371537787	chr11:65352573-65352574	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs141196567	chr11:65352574-65352575	Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs542785903	chr11:65352620-65352621	Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs562986021	chr11:65352629-65352630	Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs531504754	chr11:65352635-65352636	Bivalent/Poised TSS Strong transcription Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

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
Chronic lymphocytic leukemia	22228453	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:289 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65344200-65351800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:65344200-65352000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65344600-65351800	Weak transcription	Brain Angular Gyrus	brain
4	chr11:65345600-65353600	Weak transcription	Right Atrium	heart
5	chr11:65345800-65353600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:65345800-65353600	Strong transcription	Primary B cells from peripheral blood	blood
7	chr11:65345800-65354000	Weak transcription	HSMM	muscle
8	chr11:65345800-65355200	Weak transcription	Small Intestine	intestine
9	chr11:65346000-65354400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:65346000-65354600	Strong transcription	Primary T cells from cord blood	blood
11	chr11:65346000-65364000	Genic enhancers	Fetal Muscle Leg	muscle
12	chr11:65346200-65354400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:65346400-65351800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:65346400-65352600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:65346400-65353200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:65346400-65354000	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr11:65346400-65355200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr11:65346400-65356800	Strong transcription	Thymus	Thymus
19	chr11:65346600-65351800	Strong transcription	Rectal Smooth Muscle	rectum
20	chr11:65346600-65352000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr11:65346600-65353200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
22	chr11:65346600-65353800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:65346600-65354200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:65346600-65354200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr11:65346600-65354400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:65346600-65355000	Strong transcription	Lung	lung
27	chr11:65346600-65355200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:65346800-65352000	Strong transcription	Primary B cells from cord blood	blood
29	chr11:65346800-65353200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:65346800-65353800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr11:65346800-65354000	Strong transcription	Osteobl	bone
32	chr11:65347000-65351800	Strong transcription	Colon Smooth Muscle	Colon
33	chr11:65347000-65354000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr11:65347000-65354600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr11:65347400-65352200	Strong transcription	HSMMtube	muscle
36	chr11:65347400-65352600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:65348000-65352200	Strong transcription	A549	lung
38	chr11:65348000-65353000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr11:65348000-65353600	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr11:65348200-65355200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:65348200-65362000	Genic enhancers	Fetal Muscle Trunk	muscle
42	chr11:65348600-65353200	Weak transcription	Liver	Liver
43	chr11:65348600-65354200	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr11:65348800-65355000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr11:65348800-65355000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr11:65348800-65355200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr11:65349200-65352200	Strong transcription	Placenta	Placenta
48	chr11:65349200-65353800	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr11:65349400-65351800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:65349400-65354000	Strong transcription	Hela-S3	cervix

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