Variant report

Variant	esv3426231
Chromosome Location	chr11:63535201-63537749
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	BACH1	chr11:63536471-63536586	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCLAF1	chr11:63535604-63536072	GM12878	blood:	n/a	chr11:63535839-63535852 chr11:63535889-63535902 chr11:63535629-63535638 chr11:63535802-63535815 chr11:63535712-63535725 chr11:63535714-63535727
3	BHLHE40	chr11:63535076-63535483	K562	blood:	n/a	n/a
4	BHLHE40	chr11:63535284-63536038	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:63535794-63535909	K562	blood:	n/a	n/a
6	BHLHE40	chr11:63536655-63536659	K562	blood:	n/a	n/a
7	BRCA1	chr11:63537437-63537555	HepG2	liver:	n/a	n/a
8	BRCA1	chr11:63535795-63535974	HepG2	liver:	n/a	n/a
9	BRCA1	chr11:63535163-63535441	H1-hESC	embryonic stem cell:	n/a	n/a
10	CCNT2	chr11:63535586-63536997	K562	blood:	n/a	chr11:63536360-63536369 chr11:63535628-63535637 chr11:63536844-63536853
11	CEBPB	chr11:63535895-63535896	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPD	chr11:63535463-63535984	HepG2	liver:	n/a	n/a
13	CEBPD	chr11:63535616-63535938	HepG2	liver:	n/a	n/a
14	CHD1	chr11:63535189-63535592	GM12878	blood:	n/a	n/a
15	CHD1	chr11:63535216-63535437	H1-hESC	embryonic stem cell:	n/a	n/a
16	CHD1	chr11:63535762-63535897	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr11:63535798-63535973	GM12878	blood:	n/a	n/a
18	CHD2	chr11:63536271-63536878	Hela-S3	cervix:	n/a	n/a
19	CHD2	chr11:63535784-63535830	HepG2	liver:	n/a	n/a
20	CHD2	chr11:63535797-63536051	GM12878	blood:	n/a	n/a
21	CHD2	chr11:63535756-63536052	K562	blood:	n/a	n/a
22	CHD2	chr11:63535723-63536058	Hela-S3	cervix:	n/a	n/a
23	CHD2	chr11:63535779-63536016	H1-hESC	embryonic stem cell:	n/a	n/a
24	CREB1	chr11:63535622-63536015	A549	lung:	n/a	n/a
25	CTBP2	chr11:63535241-63535932	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr11:63535720-63535870	HA-sp	spinal cord:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
27	CTCF	chr11:63536340-63536490	HEK293	kidney:	n/a	n/a
28	CTCF	chr11:63535700-63535850	HMF	breast:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
29	CTCF	chr11:63535740-63535890	GM12873	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
30	CTCF	chr11:63535720-63535870	Caco-2	colon:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
31	CTCF	chr11:63536373-63536489	GM19238	blood:	n/a	n/a
32	CTCF	chr11:63536329-63536553	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr11:63535740-63535890	HFF-Myc	foreskin:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
34	CTCF	chr11:63536432-63536438	GM12892	blood:	n/a	n/a
35	CTCF	chr11:63535636-63535987	GM12892	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
36	CTCF	chr11:63535320-63535470	GM12864	blood:	n/a	n/a
37	CTCF	chr11:63535740-63535890	GM12868	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
38	CTCF	chr11:63536280-63536430	AG04449	skin:	n/a	n/a
39	CTCF	chr11:63535720-63535870	AG10803	skin:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
40	CTCF	chr11:63536300-63536450	Caco-2	colon:	n/a	n/a
41	CTCF	chr11:63536320-63536470	Hela-S3	cervix:	n/a	n/a
42	CTCF	chr11:63535740-63535890	GM12864	blood:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
43	CTCF	chr11:63535656-63535973	SK-N-SH_RA	brain:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
44	CTCF	chr11:63535740-63535890	HA-sp	spinal cord:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
45	CTCF	chr11:63535320-63535470	HAc	cerebellar:	n/a	n/a
46	CTCF	chr11:63536340-63536490	GM12871	blood:	n/a	n/a
47	CTCF	chr11:63535400-63535550	AG10803	skin:	n/a	n/a
48	CTCF	chr11:63536377-63536473	MCF-7	breast:	n/a	n/a
49	CTCF	chr11:63535720-63535870	HRPEpiC	eye:	n/a	chr11:63535824-63535837 chr11:63535834-63535847 chr11:63535826-63535836 chr11:63535821-63535839 chr11:63535823-63535844 chr11:63535824-63535837 chr11:63535822-63535838 chr11:63535824-63535833
50	CTCF	chr11:63536296-63536525	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63537459-63537509	HEK293	kidney:	embryo
2	chr11:63537378-63537428	A549	lung:	n/a
3	chr11:63535821-63535871	AG04449	skin:	fetal
4	chr11:63536330-63536380	AG10803	skin:	n/a
5	chr11:63536330-63536380	NB4	blood:	n/a
6	chr11:63537459-63537509	SK-N-SH_RA	brain:	n/a
7	chr11:63537459-63537509	Hela-S3	cervix:	n/a
8	chr11:63537459-63537509	SKMC	muscle:	n/a
9	chr11:63536330-63536380	HepG2	liver:	n/a
10	chr11:63535358-63535408	GM19239	blood:	n/a
11	chr11:63535358-63535408	HUVEC	blood vessel:	n/a
12	chr11:63536330-63536380	HCPEpiC	choroid plexus:	n/a
13	chr11:63536330-63536380	GM12878	blood:	n/a
14	chr11:63537459-63537509	MCF10A-Er-Src	breast:	n/a
15	chr11:63535821-63535871	HEK293	kidney:	embryo
16	chr11:63535821-63535871	MCF10A-Er-Src	breast:	n/a
17	chr11:63536855-63536905	RPTEC	kidney:	n/a
18	chr11:63535358-63535408	HCF	heart:	n/a
19	chr11:63536330-63536380	NT2-D1	testis:	n/a
20	chr11:63535358-63535408	NH-A	brain:	n/a
21	chr11:63536855-63536905	HCT-116	colon:	n/a
22	chr11:63537378-63537428	SK-N-SH	brain:	n/a
23	chr11:63537459-63537509	Hepatocyte	liver:	n/a
24	chr11:63535358-63535408	AoSMC	blood vessel:	n/a
25	chr11:63535821-63535871	T-47D	breast:	n/a
26	chr11:63536855-63536905	AG10803	skin:	n/a
27	chr11:63535821-63535871	GM12878	blood:	n/a
28	chr11:63535358-63535408	RPTEC	kidney:	n/a
29	chr11:63536330-63536380	NHBE	bronchial:	n/a
30	chr11:63536855-63536905	HAEpiC	amniotic membrane:	n/a
31	chr11:63535821-63535871	A549	lung:	n/a
32	chr11:63536330-63536380	Jurkat	blood:	n/a
33	chr11:63535358-63535408	Hela-S3	cervix:	n/a
34	chr11:63535358-63535408	K562	blood:	n/a
35	chr11:63537378-63537428	MCF-7	breast:	n/a
36	chr11:63536855-63536905	H1-hESC	embryonic stem cell:	embryo
37	chr11:63537378-63537428	HIPEpiC	eye:	n/a
38	chr11:63537378-63537428	AG09319	gingival:	n/a
39	chr11:63537459-63537509	T-47D	breast:	n/a
40	chr11:63536855-63536905	Hepatocyte	liver:	n/a
41	chr11:63535358-63535408	HCM	heart:	n/a
42	chr11:63535821-63535871	HRPEpiC	eye:	n/a
43	chr11:63535821-63535871	HMEC	breast:	n/a
44	chr11:63536855-63536905	K562	blood:	n/a
45	chr11:63537459-63537509	HCPEpiC	choroid plexus:	n/a
46	chr11:63537378-63537428	GM19239	blood:	n/a
47	chr11:63537459-63537509	AG04449	skin:	fetal
48	chr11:63537378-63537428	HRPEpiC	eye:	n/a
49	chr11:63535358-63535408	HL-60	blood:	n/a
50	chr11:63536855-63536905	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:63534918..63536804-chr11:63668712..63670378,2	MCF-7	breast:
2	chr11:63536456..63536965-chr21:41500878..41501548,2	MCF-7	breast:
3	chr11:63533773..63537846-chr11:63579275..63583196,6	MCF-7	breast:
4	chr11:63535119..63536110-chr11:63688278..63689081,3	K562	blood:
5	chr11:63534031..63536529-chr11:63677173..63679815,2	K562	blood:
6	chr11:63532069..63539323-chr11:63579489..63583130,14	MCF-7	breast:
7	chr11:63535711..63538179-chr11:63649382..63651942,2	K562	blood:
8	chr11:63535469..63537285-chr11:63604590..63607809,3	MCF-7	breast:
9	chr11:63529280..63533473-chr11:63536389..63539836,6	MCF-7	breast:
10	chr11:63536948..63539321-chr11:63636062..63638062,2	K562	blood:
11	chr11:63448182..63450282-chr11:63533461..63536298,4	MCF-7	breast:
12	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
13	chr11:63535119..63536047-chr11:63580566..63581171,3	HCT-116	colon:
14	chr11:63536780..63538591-chr11:63740958..63743379,2	K562	blood:
15	chr11:63534532..63537273-chr11:63602993..63606665,6	K562	blood:
16	chr11:63531277..63535286-chr11:63705300..63707994,3	MCF-7	breast:
17	chr11:63535254..63537273-chr11:63604196..63606665,2	K562	blood:
18	chr11:63536047..63538392-chr11:63603133..63607498,3	MCF-7	breast:
19	chr11:63535590..63537125-chr11:63584534..63586620,2	MCF-7	breast:
20	chr11:63533629..63535902-chr11:63537475..63539173,2	MCF-7	breast:
21	chr11:63536537..63538641-chr11:63540593..63542800,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATL3-1	chr11:63535956-63536058	NONHSAT021906
2	lnc-ATL3-1	chr11:63535956-63536113	ENSG00000255651.2
3	lnc-ATL3-1	chr11:63535956-63536113	ENSG00000255651.1

Variant related genes	Relation type
C11orf95	TF binding region
ENSG00000255651	TF binding region
C11orf95	CpG island
ENSG00000255651	CpG island
ENSG00000110583	chromatin interactions
ENSG00000202089	chromatin interactions
ENSG00000072518	chromatin interactions
ENSG00000176340	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000133318	chromatin interactions
ENSG00000167771	chromatin interactions
ENSG00000256100	chromatin interactions
ENSG00000188070	chromatin interactions

Extended variants
information (count: 68 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:68 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537354333	chr11:63535201-63535202	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs550123039	chr11:63535206-63535207	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs532713248	chr11:63535220-63535221	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs143397717	chr11:63535233-63535234	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs539088194	chr11:63535240-63535241	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs546097625	chr11:63535267-63535268	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs199656025	chr11:63535282-63535283	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs562962809	chr11:63535306-63535307	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs553014571	chr11:63535357-63535358	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs572892533	chr11:63535380-63535381	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs535633473	chr11:63535384-63535385	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs555274747	chr11:63535403-63535404	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs575569277	chr11:63535412-63535413	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs544534341	chr11:63535462-63535463	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
15	rs368146735	chr11:63535488-63535489	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs563645711	chr11:63535526-63535527	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs146715282	chr11:63535551-63535552	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs531713597	chr11:63535573-63535574	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs548172060	chr11:63535658-63535659	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs35177480	chr11:63535680-63535681	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs545913096	chr11:63535709-63535710	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs140628142	chr11:63535721-63535722	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs528627190	chr11:63535779-63535780	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs548719549	chr11:63536114-63536115	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
25	rs561957810	chr11:63536134-63536135	Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
26	rs531080062	chr11:63536283-63536284	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
27	rs550838816	chr11:63536300-63536301	Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs181097520	chr11:63536435-63536436	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
29	rs532930118	chr11:63536443-63536444	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
30	rs546324077	chr11:63536558-63536559	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs566513192	chr11:63536679-63536680	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs148100143	chr11:63536699-63536700	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs527568563	chr11:63536705-63536706	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs555567110	chr11:63536783-63536784	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs12796284	chr11:63536857-63536858	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs12797981	chr11:63536876-63536877	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs140932440	chr11:63536913-63536914	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs558070145	chr11:63536922-63536923	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs577901100	chr11:63536925-63536926	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs576716071	chr11:63536928-63536929	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs377042172	chr11:63536931-63536932	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs573250583	chr11:63536965-63536966	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs541977113	chr11:63536975-63536976	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs561872915	chr11:63536983-63536984	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs530990818	chr11:63537030-63537031	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs544441053	chr11:63537068-63537069	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs112074795	chr11:63537111-63537112	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
48	rs547317874	chr11:63537113-63537114	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs368119240	chr11:63537117-63537118	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs566360075	chr11:63537143-63537144	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	8 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
Breast cancer	22522925	CNVD

Chromatin state (count:399 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63532800-63535600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
2	chr11:63534200-63535400	Flanking Active TSS	HUVEC	blood vessel
3	chr11:63534200-63537400	Active TSS	Fetal Brain Female	brain
4	chr11:63534400-63535400	Flanking Active TSS	HSMM	muscle
5	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr11:63534400-63535600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:63534400-63535600	Flanking Active TSS	Dnd41	blood
8	chr11:63534400-63537400	Active TSS	HSMMtube	muscle
9	chr11:63534400-63537600	Active TSS	Brain Angular Gyrus	brain
10	chr11:63534600-63535400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:63534600-63535600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr11:63534600-63535600	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr11:63534600-63535800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr11:63534600-63537000	Active TSS	Ovary	ovary
15	chr11:63534600-63537600	Active TSS	NHDF-Ad	bronchial
16	chr11:63534800-63535400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
17	chr11:63534800-63535400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
18	chr11:63534800-63535400	Flanking Active TSS	Liver	Liver
19	chr11:63534800-63535400	Active TSS	Colonic Mucosa	Colon
20	chr11:63534800-63535400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr11:63534800-63535600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr11:63534800-63535600	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr11:63534800-63535600	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr11:63534800-63535600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr11:63534800-63535600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:63534800-63535600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr11:63534800-63535600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr11:63534800-63535600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:63534800-63535600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:63534800-63535600	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr11:63534800-63535600	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr11:63534800-63535600	Flanking Active TSS	Placenta	Placenta
33	chr11:63534800-63535600	Flanking Active TSS	Fetal Thymus	thymus
34	chr11:63534800-63535800	Flanking Active TSS	Primary hematopoietic stem cells	blood
35	chr11:63534800-63537000	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr11:63534800-63537000	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:63534800-63537000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:63534800-63537200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:63534800-63537200	Active TSS	Fetal Intestine Large	intestine
40	chr11:63534800-63537400	Active TSS	Primary T cells from cord blood	blood
41	chr11:63534800-63537400	Active TSS	Brain Substantia Nigra	brain
42	chr11:63534800-63537400	Active TSS	Left Ventricle	heart
43	chr11:63534800-63537400	Active TSS	Lung	lung
44	chr11:63534800-63537600	Active TSS	Psoas Muscle	Psoas
45	chr11:63534800-63537600	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr11:63534800-63537800	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr11:63534800-63538000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:63535000-63535400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
49	chr11:63535000-63535600	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr11:63535000-63535600	Active TSS	Fetal Brain Male	brain

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