Variant report

Variant	esv3437654
Chromosome Location	chr11:64948626-64950024
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:689)
CpG islands
(count:611)
Chromatin interactive
region (count:41)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:689 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:64949110-64949306	K562	blood:	n/a	n/a
2	ATF2	chr11:64948366-64948829	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF3	chr11:64949776-64949953	K562	blood:	n/a	n/a
4	ATF3	chr11:64949149-64949342	K562	blood:	n/a	n/a
5	BACH1	chr11:64948571-64949271	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr11:64949802-64949837	H1-hESC	embryonic stem cell:	n/a	n/a
7	BCL3	chr11:64948417-64948876	A549	lung:	n/a	chr11:64948784-64948797
8	BCLAF1	chr11:64948346-64948729	GM12878	blood:	n/a	chr11:64948382-64948391
9	BCLAF1	chr11:64948372-64948957	GM12878	blood:	n/a	chr11:64948784-64948797 chr11:64948892-64948905 chr11:64948382-64948391 chr11:64948864-64948877
10	BHLHE40	chr11:64948418-64949624	K562	blood:	n/a	chr11:64948925-64948941 chr11:64948861-64948877
11	BHLHE40	chr11:64949843-64950004	K562	blood:	n/a	n/a
12	BHLHE40	chr11:64948365-64948774	GM12878	blood:	n/a	n/a
13	BRCA1	chr11:64949162-64949372	Hela-S3	cervix:	n/a	n/a
14	CBX3	chr11:64948469-64949019	K562	blood:	n/a	n/a
15	CBX3	chr11:64949026-64949449	K562	blood:	n/a	n/a
16	CCNT2	chr11:64948365-64949782	K562	blood:	n/a	chr11:64949237-64949246 chr11:64949473-64949482 chr11:64948762-64948771 chr11:64949276-64949296 chr11:64948445-64948454 chr11:64949594-64949603
17	CEBPB	chr11:64948472-64948906	Hela-S3	cervix:	n/a	chr11:64948627-64948638
18	CEBPB	chr11:64949270-64949308	Hela-S3	cervix:	n/a	n/a
19	CEBPB	chr11:64948405-64948875	MCF-7	breast:	n/a	chr11:64948627-64948638
20	CEBPB	chr11:64948357-64948834	GM12878	blood:	n/a	chr11:64948627-64948638
21	CEBPB	chr11:64948552-64948802	H1-hESC	embryonic stem cell:	n/a	chr11:64948627-64948638
22	CEBPB	chr11:64948487-64948896	IMR90	lung:	n/a	chr11:64948627-64948638
23	CEBPB	chr11:64948492-64948778	HepG2	liver:	n/a	chr11:64948627-64948638
24	CEBPB	chr11:64948540-64948780	A549	lung:	n/a	chr11:64948627-64948638
25	CEBPB	chr11:64948544-64948798	K562	blood:	n/a	chr11:64948627-64948638
26	CEBPD	chr11:64949003-64949490	K562	blood:	n/a	n/a
27	CEBPD	chr11:64949017-64949653	K562	blood:	n/a	n/a
28	CEBPD	chr11:64948953-64949439	HepG2	liver:	n/a	n/a
29	CHD1	chr11:64949536-64949905	GM12878	blood:	n/a	n/a
30	CHD1	chr11:64948822-64949304	GM12878	blood:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
31	CHD2	chr11:64949093-64949610	GM12878	blood:	n/a	chr11:64949238-64949248
32	CHD2	chr11:64948405-64948943	H1-hESC	embryonic stem cell:	n/a	chr11:64948917-64948927
33	CHD2	chr11:64948858-64949413	K562	blood:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
34	CHD2	chr11:64949185-64949301	HepG2	liver:	n/a	chr11:64949238-64949248
35	CHD2	chr11:64948378-64948769	GM12878	blood:	n/a	n/a
36	CHD2	chr11:64949337-64949340	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD2	chr11:64948411-64949760	Hela-S3	cervix:	n/a	chr11:64949238-64949248 chr11:64948917-64948927
38	CREB1	chr11:64948567-64949338	A549	lung:	n/a	n/a
39	CTBP2	chr11:64949424-64950037	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr11:64948645-64948956	T-47D	breast:	n/a	n/a
41	CTCF	chr11:64948696-64948914	MCF-7	breast:	n/a	n/a
42	CTCF	chr11:64948690-64948895	ProgFib	skin:	n/a	n/a
43	CTCF	chr11:64948385-64948651	GM10248	blood:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
44	CTCF	chr11:64948740-64948890	GM12872	blood:	n/a	n/a
45	CTCF	chr11:64948660-64948810	HAc	cerebellar:	n/a	n/a
46	CTCF	chr11:64948780-64948930	HMEC	breast:	n/a	n/a
47	CTCF	chr11:64948480-64948630	GM12872	blood:	n/a	chr11:64948480-64948501 chr11:64948487-64948500 chr11:64948485-64948503
48	CTCF	chr11:64948680-64948830	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr11:64948691-64948952	HepG2	liver:	n/a	n/a
50	CTCF	chr11:64948700-64948850	GM12865	blood:	n/a	n/a

(count:611 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:64948989-64949039	H1-hESC	embryonic stem cell:	embryo
2	chr11:64948989-64949039	H1-hESC	embryonic stem cell:	embryo
3	chr11:64949046-64949096	NHBE	bronchial:	n/a
4	chr11:64948822-64948872	GM12892	blood:	n/a
5	chr11:64948822-64948872	SK-N-SH	brain:	n/a
6	chr11:64949398-64949448	HUVEC	blood vessel:	n/a
7	chr11:64948848-64948898	GM12891	blood:	n/a
8	chr11:64948822-64948872	HCF	heart:	n/a
9	chr11:64949223-64949273	HRCEpiC	kidney:	n/a
10	chr11:64949398-64949448	MCF10A-Er-Src	breast:	n/a
11	chr11:64949878-64949928	MCF10A-Er-Src	breast:	n/a
12	chr11:64948822-64948872	Caco-2	colon:	n/a
13	chr11:64949042-64949092	NHDF-neo	bronchial:	n/a
14	chr11:64949046-64949096	HAEpiC	amniotic membrane:	n/a
15	chr11:64949223-64949273	SAEC	small airway:	n/a
16	chr11:64949398-64949448	GM06990	blood:	n/a
17	chr11:64948848-64948898	SK-N-SH	brain:	n/a
18	chr11:64949042-64949092	SKMC	muscle:	n/a
19	chr11:64949878-64949928	AG09319	gingival:	n/a
20	chr11:64949038-64949088	SKMC	muscle:	n/a
21	chr11:64949878-64949928	PFSK-1	brain:	n/a
22	chr11:64949042-64949092	T-47D	breast:	n/a
23	chr11:64949878-64949928	HIPEpiC	eye:	n/a
24	chr11:64948848-64948898	ovcar-3	ovarian:	n/a
25	chr11:64949223-64949273	AoSMC	blood vessel:	n/a
26	chr11:64949878-64949928	HRCEpiC	kidney:	n/a
27	chr11:64949038-64949088	IMR90	lung:	fetal
28	chr11:64949042-64949092	PANC-1	pancreas:	n/a
29	chr11:64948989-64949039	SK-N-SH	brain:	n/a
30	chr11:64949042-64949092	ECC-1	luminal epithelium:	n/a
31	chr11:64948989-64949039	GM06990	blood:	n/a
32	chr11:64949042-64949092	Caco-2	colon:	n/a
33	chr11:64949173-64949223	ovcar-3	ovarian:	n/a
34	chr11:64949223-64949273	HCT-116	colon:	n/a
35	chr11:64949223-64949273	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:64949173-64949223	NB4	blood:	n/a
37	chr11:64949046-64949096	LNCaP	prostate:	n/a
38	chr11:64949398-64949448	PrEC	prostate:	n/a
39	chr11:64949398-64949448	BJ	skin:	n/a
40	chr11:64948989-64949039	NB4	blood:	n/a
41	chr11:64949398-64949448	ECC-1	luminal epithelium:	n/a
42	chr11:64949042-64949092	GM12878	blood:	n/a
43	chr11:64949878-64949928	CMK	blood:	n/a
44	chr11:64949038-64949088	PANC-1	pancreas:	n/a
45	chr11:64949042-64949092	GM19239	blood:	n/a
46	chr11:64948989-64949039	NH-A	brain:	n/a
47	chr11:64948989-64949039	SK-N-SH_RA	brain:	n/a
48	chr11:64948848-64948898	CMK	blood:	n/a
49	chr11:64948989-64949039	MCF-7	breast:	n/a
50	chr11:64948989-64949039	BJ	skin:	n/a

(count:41 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
2	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
3	chr11:64644921..64647626-chr11:64948017..64950319,4	K562	blood:
4	chr11:64948264..64950913-chr11:64951274..64954036,3	MCF-7	breast:
5	chr11:64879725..64880624-chr11:64948063..64948868,2	MCF-7	breast:
6	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
7	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
8	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
9	chr11:64948818..64949639-chr5:10249655..10250314,2	Hela-S3	cervix:
10	chr11:64849453..64851884-chr11:64947314..64948879,2	K562	blood:
11	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
12	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
13	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:
14	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
15	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
16	chr11:64877480..64878722-chr11:64948008..64949236,4	K562	blood:
17	chr11:64877899..64878692-chr11:64948009..64948993,4	MCF-7	breast:
18	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
19	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
20	chr11:64947686..64949760-chr11:64975928..64978193,2	MCF-7	breast:
21	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
22	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
23	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
24	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
25	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
26	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
27	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
28	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
29	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
30	chr11:64948574..64950369-chr11:65028562..65030445,2	MCF-7	breast:
31	chr11:64885115..64885976-chr11:64948064..64949006,5	MCF-7	breast:
32	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
33	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
34	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
35	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
36	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
37	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
38	chr11:64949318..64950980-chr11:65546666..65549109,2	MCF-7	breast:
39	chr11:64889440..64890069-chr11:64948423..64948930,2	MCF-7	breast:
40	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
41	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000255200	TF binding region
CAPN1	TF binding region
ENSG00000254614	TF binding region
ENSG00000255200	CpG island
CAPN1	CpG island
ENSG00000254614	CpG island
ENSG00000146670	chromatin interactions
ENSG00000213465	chromatin interactions
ENSG00000150753	chromatin interactions
ENSG00000255200	chromatin interactions
ENSG00000273003	chromatin interactions
ENSG00000175827	chromatin interactions
ENSG00000197847	chromatin interactions
ENSG00000149792	chromatin interactions
ENSG00000168062	chromatin interactions
ENSG00000150756	chromatin interactions
ENSG00000255173	chromatin interactions
ENSG00000110047	chromatin interactions
ENSG00000270117	chromatin interactions
ENSG00000222477	chromatin interactions
ENSG00000149806	chromatin interactions
ENSG00000014216	chromatin interactions
ENSG00000149823	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000254455	chromatin interactions
ENSG00000254470	chromatin interactions
ENSG00000168061	chromatin interactions
ENSG00000254501	chromatin interactions
ENSG00000162300	chromatin interactions
ENSG00000014138	chromatin interactions
ENSG00000149809	chromatin interactions
ENSG00000162298	chromatin interactions
ENSG00000168067	chromatin interactions
ENSG00000174276	chromatin interactions
ENSG00000204710	chromatin interactions
ENSG00000075461	chromatin interactions

Extended variants
information (count: 39 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535277122	chr11:64948642-64948643	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
2	rs555094349	chr11:64948645-64948646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
3	rs574613276	chr11:64948680-64948681	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
4	rs141999503	chr11:64948711-64948712	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
5	rs557357667	chr11:64948745-64948746	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
6	rs371304983	chr11:64948756-64948757	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
7	rs577143823	chr11:64948796-64948797	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
8	rs375216782	chr11:64948855-64948856	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
9	rs17881576	chr11:64948932-64948933	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
10	rs560080713	chr11:64948940-64948941	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
11	rs573539982	chr11:64949006-64949007	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
12	rs542446481	chr11:64949083-64949084	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
13	rs562239019	chr11:64949088-64949089	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
14	rs17880457	chr11:64949119-64949120	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	mRNA abundance
15	rs550389675	chr11:64949142-64949143	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
16	rs17881181	chr11:64949152-64949153	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
17	rs532781711	chr11:64949155-64949156	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
18	rs546147894	chr11:64949156-64949157	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
19	rs111300161	chr11:64949169-64949170	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
20	rs566431302	chr11:64949188-64949189	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
21	rs75557976	chr11:64949283-64949284	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
22	rs17878263	chr11:64949365-64949366	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
23	rs548780607	chr11:64949405-64949406	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
24	rs559215058	chr11:64949520-64949521	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	28 gene(s)	Overlapped CNVs	n/a
25	rs370482102	chr11:64949558-64949559	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	27 gene(s)	Overlapped CNVs	n/a
26	rs141268414	chr11:64949575-64949576	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	26 gene(s)	Overlapped CNVs	n/a
27	rs146825481	chr11:64949652-64949653	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
28	rs537577428	chr11:64949689-64949690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
29	rs150781111	chr11:64949697-64949698	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
30	rs12419664	chr11:64949698-64949699	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
31	rs373644411	chr11:64949705-64949706	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
32	rs368497600	chr11:64949706-64949707	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
33	rs566123162	chr11:64949754-64949755	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
34	rs367776731	chr11:64949759-64949760	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
35	rs577211311	chr11:64949838-64949839	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
36	rs17883654	chr11:64949842-64949843	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
37	rs539461922	chr11:64949962-64949963	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a
38	rs17883382	chr11:64949991-64949992	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	24 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs17883146	chr11:64950007-64950008	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	24 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:262 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr11:64947800-64948800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr11:64947800-64949600	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr11:64947800-64950200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr11:64948000-64948800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:64948000-64948800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr11:64948000-64948800	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr11:64948000-64948800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr11:64948000-64948800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr11:64948000-64948800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr11:64948000-64948800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:64948000-64948800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
20	chr11:64948000-64948800	Flanking Active TSS	Fetal Brain Female	brain
21	chr11:64948000-64948800	Flanking Active TSS	Fetal Muscle Trunk	muscle
22	chr11:64948000-64948800	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr11:64948000-64948800	Flanking Active TSS	Right Ventricle	heart
24	chr11:64948000-64948800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr11:64948000-64948800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr11:64948000-64949600	Active TSS	Colonic Mucosa	Colon
27	chr11:64948000-64949800	Active TSS	Brain Cingulate Gyrus	brain
28	chr11:64948000-64949800	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr11:64948000-64949800	Active TSS	Fetal Heart	heart
30	chr11:64948000-64949800	Active TSS	Osteobl	bone
31	chr11:64948000-64950000	Active TSS	Brain Anterior Caudate	brain
32	chr11:64948000-64950000	Active TSS	Brain Hippocampus Middle	brain
33	chr11:64948000-64950000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:64948000-64950000	Active TSS	Esophagus	oesophagus
35	chr11:64948000-64950000	Active TSS	Left Ventricle	heart
36	chr11:64948000-64950000	Active TSS	Pancreas	Pancrea
37	chr11:64948000-64950200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr11:64948000-64950200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:64948000-64950200	Active TSS	Sigmoid Colon	Sigmoid Colon
40	chr11:64948000-64950400	Active TSS	Brain Angular Gyrus	brain
41	chr11:64948000-64950400	Active TSS	Fetal Kidney	kidney
42	chr11:64948000-64950400	Active TSS	Right Atrium	heart
43	chr11:64948000-64950400	Active TSS	Small Intestine	intestine
44	chr11:64948000-64950600	Active TSS	NHDF-Ad	bronchial
45	chr11:64948000-64950800	Active TSS	HSMM	muscle
46	chr11:64948000-64951000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr11:64948000-64951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:64948000-64951000	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr11:64948200-64948800	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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