Variant report

Variant	nsv897674
Chromosome Location	chr11:63994692-64006292
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:947)
CpG islands
(count:1348)
Chromatin interactive
region (count:39)
LncRNA
region (count:7)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:947 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr11:63997533-63998157	K562	blood:	n/a	n/a
2	ATF2	chr11:63997593-63998027	GM12878	blood:	n/a	n/a
3	ATF2	chr11:63997813-63998048	GM12878	blood:	n/a	n/a
4	ATF3	chr11:63999714-63999929	K562	blood:	n/a	n/a
5	BACH1	chr11:63997757-63998177	H1-hESC	embryonic stem cell:	n/a	n/a
6	BCL3	chr11:64001575-64001910	A549	lung:	n/a	chr11:64001891-64001904 chr11:64001884-64001897 chr11:64001889-64001898
7	BCL3	chr11:63997495-63998663	A549	lung:	n/a	n/a
8	BCL3	chr11:63997653-63998266	GM12878	blood:	n/a	n/a
9	BCLAF1	chr11:63997406-63998032	GM12878	blood:	n/a	n/a
10	BHLHE40	chr11:63997604-63997849	K562	blood:	n/a	n/a
11	BHLHE40	chr11:64002338-64002552	HepG2	liver:	n/a	n/a
12	BHLHE40	chr11:64002377-64002511	K562	blood:	n/a	n/a
13	BHLHE40	chr11:64001843-64002037	GM12878	blood:	n/a	n/a
14	BHLHE40	chr11:64002339-64002547	GM12878	blood:	n/a	n/a
15	BRCA1	chr11:63997742-63998127	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr11:63997849-63998208	GM12878	blood:	n/a	n/a
17	CBX3	chr11:64002916-64003287	K562	blood:	n/a	n/a
18	CBX3	chr11:63997438-63998192	K562	blood:	n/a	n/a
19	CBX3	chr11:64002990-64003263	K562	blood:	n/a	n/a
20	CCNT2	chr11:64002284-64002654	K562	blood:	n/a	chr11:64002598-64002607
21	CCNT2	chr11:63999885-64000085	K562	blood:	n/a	chr11:63999891-63999900
22	CCNT2	chr11:64001644-64001953	K562	blood:	n/a	chr11:64001788-64001797
23	CCNT2	chr11:63997608-63998594	K562	blood:	n/a	chr11:63997863-63997872 chr11:63997998-63998007
24	CEBPB	chr11:64000677-64000846	K562	blood:	n/a	n/a
25	CEBPB	chr11:63999792-63999846	K562	blood:	n/a	n/a
26	CEBPD	chr11:64002472-64002793	HepG2	liver:	n/a	n/a
27	CEBPD	chr11:63997570-63998252	HepG2	liver:	n/a	n/a
28	CHD1	chr11:63997595-63998489	GM12878	blood:	n/a	n/a
29	CHD2	chr11:64001702-64001939	Hela-S3	cervix:	n/a	chr11:64001894-64001904
30	CHD2	chr11:63997342-63997477	GM12878	blood:	n/a	n/a
31	CHD2	chr11:64001736-64001910	GM12878	blood:	n/a	chr11:64001894-64001904
32	CHD2	chr11:63997756-63998686	K562	blood:	n/a	n/a
33	CHD2	chr11:64002374-64002624	Hela-S3	cervix:	n/a	n/a
34	CHD2	chr11:64002527-64002571	GM12878	blood:	n/a	n/a
35	CHD2	chr11:63997662-63998493	Hela-S3	cervix:	n/a	n/a
36	CHD2	chr11:63999300-63999494	K562	blood:	n/a	n/a
37	CHD2	chr11:63997742-63998531	GM12878	blood:	n/a	n/a
38	CHD2	chr11:63997829-63997943	HepG2	liver:	n/a	n/a
39	CHD2	chr11:63997647-63998100	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr11:64005061-64005383	HepG2	liver:	n/a	n/a
41	CREB1	chr11:63997528-63998123	ECC-1	luminal epithelium:	n/a	n/a
42	CREB1	chr11:63997470-63998669	HepG2	liver:	n/a	n/a
43	CREB1	chr11:63997531-63998263	K562	blood:	n/a	n/a
44	CREB1	chr11:63997507-63998226	ECC-1	luminal epithelium:	n/a	n/a
45	CREB1	chr11:63997731-63998103	A549	lung:	n/a	n/a
46	CREB1	chr11:63997509-63998253	H1-hESC	embryonic stem cell:	n/a	n/a
47	CREB1	chr11:63997444-63998378	GM12878	blood:	n/a	n/a
48	CREB1	chr11:63997562-63998190	H1-hESC	embryonic stem cell:	n/a	n/a
49	CREB1	chr11:64002264-64002615	A549	lung:	n/a	n/a
50	CREB1	chr11:64001604-64002013	A549	lung:	n/a	n/a

(count:1348 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63998438-63998488	AoSMC	blood vessel:	n/a
2	chr11:63998250-63998300	NHBE	bronchial:	n/a
3	chr11:63996766-63996816	HCT-116	colon:	n/a
4	chr11:63997961-63998011	HL-60	blood:	n/a
5	chr11:63997961-63998011	NHBE	bronchial:	n/a
6	chr11:64002298-64002348	NHBE	bronchial:	n/a
7	chr11:63998438-63998488	AoSMC	blood vessel:	n/a
8	chr11:63998250-63998300	NHBE	bronchial:	n/a
9	chr11:63996766-63996816	HCT-116	colon:	n/a
10	chr11:63997961-63998011	HL-60	blood:	n/a
11	chr11:63997961-63998011	NHBE	bronchial:	n/a
12	chr11:64002298-64002348	NHBE	bronchial:	n/a
13	chr11:63997720-63997770	NHDF-neo	bronchial:	n/a
14	chr11:64002298-64002348	ProgFib	skin:	n/a
15	chr11:64002295-64002345	Caco-2	colon:	n/a
16	chr11:64002295-64002345	GM06990	blood:	n/a
17	chr11:64002295-64002345	ProgFib	skin:	n/a
18	chr11:63997492-63997542	NHBE	bronchial:	n/a
19	chr11:63997492-63997542	ovcar-3	ovarian:	n/a
20	chr11:64002298-64002348	T-47D	breast:	n/a
21	chr11:63998438-63998488	NHDF-neo	bronchial:	n/a
22	chr11:64001712-64001762	IMR90	lung:	fetal
23	chr11:63997982-63998032	K562	blood:	n/a
24	chr11:63997715-63997765	PFSK-1	brain:	n/a
25	chr11:63997306-63997356	U87	brain:	n/a
26	chr11:64002295-64002345	AG04450	lung:	fetal
27	chr11:63997586-63997636	HUVEC	blood vessel:	n/a
28	chr11:63996766-63996816	MCF10A-Er-Src	breast:	n/a
29	chr11:63998250-63998300	PrEC	prostate:	n/a
30	chr11:63997740-63997790	AG10803	skin:	n/a
31	chr11:63996766-63996816	BE2_C	brain:	n/a
32	chr11:64002754-64002804	CMK	blood:	n/a
33	chr11:64002635-64002685	HNPCEpiC	eye:	n/a
34	chr11:64005428-64005478	AG04450	lung:	fetal
35	chr11:64002754-64002804	NHDF-neo	bronchial:	n/a
36	chr11:64002295-64002345	AoSMC	blood vessel:	n/a
37	chr11:63997586-63997636	LNCaP	prostate:	n/a
38	chr11:63996766-63996816	GM19239	blood:	n/a
39	chr11:63997961-63998011	HEEpiC	esophagus:	n/a
40	chr11:63997668-63997718	GM12891	blood:	n/a
41	chr11:64001994-64002044	HRPEpiC	eye:	n/a
42	chr11:64002754-64002804	ovcar-3	ovarian:	n/a
43	chr11:63997715-63997765	IMR90	lung:	fetal
44	chr11:63997715-63997765	HCM	heart:	n/a
45	chr11:64002295-64002345	NHDF-neo	bronchial:	n/a
46	chr11:63997720-63997770	SK-N-SH_RA	brain:	n/a
47	chr11:63998438-63998488	SK-N-SH_RA	brain:	n/a
48	chr11:64002754-64002804	Hela-S3	cervix:	n/a
49	chr11:63997720-63997770	RPTEC	kidney:	n/a
50	chr11:64001712-64001762	AG09309	skin:	n/a

(count:39 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63579430..63582335-chr11:63993670..63995611,2	K562	blood:
2	chr11:63951708..63954659-chr11:63996505..63999341,3	MCF-7	breast:
3	chr11:63998837..64000808-chr11:64079142..64081596,2	MCF-7	breast:
4	chr11:64001331..64003379-chr11:64062439..64064683,2	MCF-7	breast:
5	chr11:64006100..64009452-chr11:64096947..64099274,3	K562	blood:
6	chr11:63931926..63934218-chr11:63996442..63998414,3	MCF-7	breast:
7	chr11:64004816..64010809-chr11:64048058..64057254,13	MCF-7	breast:
8	chr11:63995120..63997968-chr11:64121307..64123121,2	K562	blood:
9	chr11:63952913..63955052-chr11:64000550..64003768,4	MCF-7	breast:
10	chr11:64001124..64003237-chr5:180669340..180672210,2	MCF-7	breast:
11	chr11:64003822..64006272-chr11:64058913..64060452,2	MCF-7	breast:
12	chr11:63950870..63952881-chr11:64001401..64003560,2	MCF-7	breast:
13	chr11:64001215..64003769-chr11:64062719..64064324,2	MCF-7	breast:
14	chr11:63994757..64000133-chr11:64050787..64054663,5	MCF-7	breast:
15	chr11:63994977..63999244-chr11:64052371..64054935,4	MCF-7	breast:
16	chr11:63932405..63934131-chr11:64004230..64006451,2	MCF-7	breast:
17	chr11:64003628..64022712-chr11:64064086..64078429,56	MCF-7	breast:
18	chr11:63993205..63994873-chr11:64060700..64063524,2	MCF-7	breast:
19	chr11:64004012..64005762-chr11:64124323..64126720,2	MCF-7	breast:
20	chr11:64001770..64003427-chr11:64071826..64073538,2	MCF-7	breast:
21	chr11:64000315..64002426-chr11:64053899..64055582,2	MCF-7	breast:
22	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
23	chr11:64001731..64003390-chr11:64072435..64074262,2	MCF-7	breast:
24	chr11:63997014..63999742-chr11:64070693..64073511,5	MCF-7	breast:
25	chr11:63997112..63999658-chr11:64063804..64066136,2	MCF-7	breast:
26	chr11:64005251..64012775-chr11:64065543..64076594,19	MCF-7	breast:
27	chr11:63951654..63956341-chr11:63991514..63996131,9	MCF-7	breast:
28	chr11:64000008..64002901-chr11:64125113..64127418,2	MCF-7	breast:
29	chr11:63990938..63995618-chr11:64068467..64075569,11	MCF-7	breast:
30	chr11:63993921..63994825-chr9:33001104..33001661,2	Hela-S3	cervix:
31	chr11:63992108..63994970-chr11:64050201..64053443,5	MCF-7	breast:
32	chr11:63997600..63998258-chr17:39845574..39846452,2	Hela-S3	cervix:
33	chr11:63997846..63998525-chr20:47894885..47895636,2	Hela-S3	cervix:
34	chr11:63931932..63936018-chr11:63996543..64001155,4	MCF-7	breast:
35	chr11:64006071..64007767-chr11:64081275..64082893,2	MCF-7	breast:
36	chr11:64001901..64002697-chr15:65596667..65597412,2	HCT-116	colon:
37	chr11:63932568..63935141-chr11:63993755..63995910,2	MCF-7	breast:
38	chr11:63997990..64000103-chr11:64070945..64073334,3	MCF-7	breast:
39	chr11:63933271..63935059-chr11:64002653..64006652,3	MCF-7	breast:

(count:7 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRPT1-1	chr11:63998695-63998762	ENSG00000256116.1
2	lnc-DNAJC4-3	chr11:64004993-64005127	NONHSAT021969
3	lnc-DNAJC4-1	chr11:64000964-64001452	NONHSAT021966
4	lnc-DNAJC4-3	chr11:64005828-64006259	NONHSAT021969
5	lnc-DNAJC4-3	chr11:64004599-64004694	NONHSAT021969
6	lnc-DNAJC4-1	chr11:64001545-64001758	NONHSAT021966
7	lnc-TRPT1-1	chr11:64001666-64001824	ENSG00000256116.1

No data

Variant related genes	Relation type
FKBP2	TF binding region
NUDT22	TF binding region
DNAJC4	TF binding region
ENSG00000256116	TF binding region
TRPT1	TF binding region
VEGFB	TF binding region
FKBP2	CpG island
NUDT22	CpG island
DNAJC4	CpG island
ENSG00000256116	CpG island
TRPT1	CpG island
VEGFB	CpG island
ENSG00000173264	chromatin interactions
ENSG00000137074	chromatin interactions
ENSG00000173812	chromatin interactions
ENSG00000133315	chromatin interactions
ENSG00000168071	chromatin interactions
ENSG00000168005	chromatin interactions
ENSG00000209042	chromatin interactions
ENSG00000207024	chromatin interactions
ENSG00000219435	chromatin interactions
ENSG00000200156	chromatin interactions
ENSG00000162302	chromatin interactions
ENSG00000124201	chromatin interactions
ENSG00000264549	chromatin interactions
ENSG00000168439	chromatin interactions
ENSG00000177410	chromatin interactions
ENSG00000002330	chromatin interactions
ENSG00000257069	chromatin interactions
ENSG00000236935	chromatin interactions
ENSG00000173153	chromatin interactions
ENSG00000204628	chromatin interactions
ENSG00000182450	chromatin interactions

Extended variants
information (count: 656 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:656 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1860368	chr11:63994692-63994693	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs2429456	chr11:63994696-63994697	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
3	rs191056396	chr11:63994717-63994718	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
4	rs148094495	chr11:63994720-63994721	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
5	rs545441766	chr11:63994754-63994755	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
6	rs565246296	chr11:63994802-63994803	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
7	rs565792498	chr11:63994803-63994804	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
8	rs527788756	chr11:63994821-63994822	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
9	rs555113919	chr11:63994847-63994848	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
10	rs561569849	chr11:63994849-63994850	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
11	rs182893079	chr11:63994858-63994859	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
12	rs74608303	chr11:63994859-63994860	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
13	rs570273310	chr11:63994935-63994936	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs532631470	chr11:63994946-63994947	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs371222446	chr11:63994968-63994969	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs551766205	chr11:63995000-63995001	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs147337449	chr11:63995001-63995002	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs151057740	chr11:63995078-63995079	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs139747440	chr11:63995093-63995094	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
20	rs371004646	chr11:63995120-63995121	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
21	rs202042067	chr11:63995127-63995128	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
22	rs534144491	chr11:63995148-63995149	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
23	rs375245205	chr11:63995181-63995182	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs368212885	chr11:63995182-63995183	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
25	rs188629016	chr11:63995185-63995186	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs369459355	chr11:63995207-63995208	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs61886862	chr11:63995208-63995209	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs568280913	chr11:63995216-63995217	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs536824334	chr11:63995301-63995302	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs2429455	chr11:63995302-63995303	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs139349192	chr11:63995304-63995305	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
32	rs192998107	chr11:63995374-63995375	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
33	rs559038607	chr11:63995376-63995377	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
34	rs551477264	chr11:63995430-63995431	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs572461902	chr11:63995442-63995443	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs112075600	chr11:63995467-63995468	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs541573372	chr11:63995469-63995470	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs183186028	chr11:63995477-63995478	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs530179593	chr11:63995502-63995503	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs529927601	chr11:63995508-63995509	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs200807289	chr11:63995548-63995549	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs377081562	chr11:63995563-63995564	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs571914260	chr11:63995568-63995569	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs543667769	chr11:63995579-63995580	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs368130987	chr11:63995603-63995604	Weak transcription Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs532671863	chr11:63995617-63995618	Weak transcription Enhancers	Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs552450350	chr11:63995621-63995622	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs200646616	chr11:63995646-63995647	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
49	rs558966904	chr11:63995648-63995649	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
50	rs146908310	chr11:63995653-63995654	Weak transcription Enhancers	TF binding region Chromatin interactive region	8 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
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Pituitary adenoma	18645599	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	21080181	CNVD
Smith-Lemli-Opitz syndrome	21572526	CNVD
Multiple myeloma	16461302	CNVD
Cancer	16751803	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Metanephric adenoma	20802469	CNVD
Chordoma	21602918	CNVD
Melanoma	18172304	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
ovarian endometriomas	16273235	CNVD
Breast cancer	21785460	CNVD
Breast cancer	16417655	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	17217626	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	21045282	CNVD
Breast cancer	21806811	CNVD
Breast cancer	22002566	CNVD
Ductal carcinoma	18381933	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20953835	CNVD
oto-dental syndrome	17656375	CNVD
Asthma	21956041	CNVD
Breast cancer	17603634	CNVD
Ovarian neoplasms	16753589	CNVD
Non-small cell lung cancer	20864512	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21509527	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Prostate cancer	18779856	CNVD
Cancer	17160897	CNVD
Breast cancer	17001317	CNVD
Oral squamous cell carcinoma	16619035	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16272173	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	16882699	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668395	CNVD
Spinal muscular atrophy	17668395	CNVD
Neonatal seizures	17668395	CNVD
Neonatal seizures	17668391	CNVD
Neuroticism	17667963	CNVD
Cancer	17916600	CNVD
Squamous cell cancer	19047905	CNVD
Multiple endocrine neoplasia type 1	19566914	CNVD
XY sex reversal	17503084	CNVD
Berardinelli-seip congenital generalized lipodystrophy	17668391	CNVD
Maculopathy	17646752	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17157792	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1784 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63992400-63995200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr11:63992600-63995200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr11:63992600-63995200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:63992600-63995400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr11:63992800-63994800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:63992800-63995000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr11:63992800-63995000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:63992800-63995000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
9	chr11:63992800-63995200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr11:63992800-63995200	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr11:63993000-63994800	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr11:63993000-63994800	Active TSS	Aorta	Aorta
13	chr11:63993000-63995000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr11:63993000-63995000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:63993000-63995000	Active TSS	HSMMtube	muscle
16	chr11:63993000-63995200	Active TSS	Fetal Kidney	kidney
17	chr11:63993000-63995200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr11:63993000-63995400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:63993200-63995200	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr11:63993200-63995400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr11:63993600-63995400	Enhancers	Fetal Heart	heart
22	chr11:63993800-63994800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:63993800-63994800	Flanking Active TSS	Fetal Muscle Trunk	muscle
24	chr11:63993800-63995000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr11:63993800-63995000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
26	chr11:63993800-63995200	Flanking Active TSS	Fetal Thymus	thymus
27	chr11:63993800-63995400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:63994000-63994800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:63994000-63994800	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr11:63994000-63994800	Flanking Active TSS	Fetal Stomach	stomach
31	chr11:63994000-63994800	Flanking Active TSS	Lung	lung
32	chr11:63994000-63995000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:63994000-63995000	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr11:63994000-63995000	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr11:63994000-63995000	Flanking Active TSS	Fetal Lung	lung
36	chr11:63994000-63995000	Flanking Active TSS	Placenta	Placenta
37	chr11:63994000-63995200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:63994000-63995200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr11:63994000-63995200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr11:63994000-63995200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr11:63994000-63995200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr11:63994000-63995200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr11:63994000-63995200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr11:63994000-63995200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr11:63994000-63995200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr11:63994000-63995200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:63994000-63995200	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr11:63994000-63995200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr11:63994000-63995200	Flanking Active TSS	Colonic Mucosa	Colon
50	chr11:63994000-63995200	Flanking Active TSS	Duodenum Mucosa	Duodenum

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