Variant report

Variant	nsv972928
Chromosome Location	chr11:68344202-68352075
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	ARID3A	chr11:68347156-68347163	HepG2	liver:	n/a	n/a
2	BACH1	chr11:68351595-68351636	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr11:68346967-68347212	GM12878	blood:	n/a	n/a
4	BCL3	chr11:68346859-68347386	GM12878	blood:	n/a	n/a
5	BHLHE40	chr11:68351551-68351879	K562	blood:	n/a	n/a
6	BRCA1	chr11:68351478-68351797	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr11:68350377-68350722	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr11:68350365-68350946	IMR90	lung:	n/a	n/a
9	CEBPB	chr11:68351502-68351962	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr11:68351545-68351798	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr11:68351620-68351770	HCM	heart:	n/a	chr11:68351656-68351674
12	CTCF	chr11:68351580-68351730	HEK293	kidney:	n/a	chr11:68351656-68351674
13	CTCF	chr11:68351463-68351861	K562	blood:	n/a	chr11:68351656-68351674
14	CTCF	chr11:68351520-68351670	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr11:68351546-68351789	GM10266	blood:	n/a	chr11:68351656-68351674
16	CTCF	chr11:68351580-68351730	GM12872	blood:	n/a	chr11:68351656-68351674
17	CTCF	chr11:68351560-68351710	BE2_C	brain:	n/a	chr11:68351656-68351674
18	CTCF	chr11:68351620-68351770	HMF	breast:	n/a	chr11:68351656-68351674
19	CTCF	chr11:68351580-68351730	SK-N-SH_RA	brain:	n/a	chr11:68351656-68351674
20	CTCF	chr11:68351580-68351730	HMEC	breast:	n/a	chr11:68351656-68351674
21	CTCF	chr11:68351580-68351730	RPTEC	kidney:	n/a	chr11:68351656-68351674
22	CTCF	chr11:68351545-68351811	ProgFib	skin:	n/a	chr11:68351656-68351674
23	CTCF	chr11:68351580-68351730	GM12871	blood:	n/a	chr11:68351656-68351674
24	CTCF	chr11:68351560-68351710	BJ	skin:	n/a	chr11:68351656-68351674
25	CTCF	chr11:68351640-68351790	GM12874	blood:	n/a	chr11:68351656-68351674
26	CTCF	chr11:68351580-68351730	HCPEpiC	choroid plexus:	n/a	chr11:68351656-68351674
27	CTCF	chr11:68351600-68351750	GM12873	blood:	n/a	chr11:68351656-68351674
28	CTCF	chr11:68351560-68351710	GM12864	blood:	n/a	chr11:68351656-68351674
29	CTCF	chr11:68351560-68351710	GM12871	blood:	n/a	chr11:68351656-68351674
30	CTCF	chr11:68351589-68351787	Lung_OC	lung:	n/a	chr11:68351656-68351674
31	CTCF	chr11:68351547-68351810	GM19240	blood:	n/a	chr11:68351656-68351674
32	CTCF	chr11:68351580-68351730	BE2_C	brain:	n/a	chr11:68351656-68351674
33	CTCF	chr11:68351580-68351730	HRE	kidney:	n/a	chr11:68351656-68351674
34	CTCF	chr11:68351528-68351813	K562	blood:	n/a	chr11:68351656-68351674
35	CTCF	chr11:68351455-68351857	GM12878	blood:	n/a	chr11:68351656-68351674
36	CTCF	chr11:68351497-68351887	K562	blood:	n/a	chr11:68351656-68351674
37	CTCF	chr11:68351455-68351879	A549	lung:	n/a	chr11:68351656-68351674
38	CTCF	chr11:68351257-68351968	A549	lung:	n/a	chr11:68351656-68351674
39	CTCF	chr11:68351560-68351710	HAc	cerebellar:	n/a	chr11:68351656-68351674
40	CTCF	chr11:68351620-68351770	GM12865	blood:	n/a	chr11:68351656-68351674
41	CTCF	chr11:68351552-68351760	GM20000	blood:	n/a	chr11:68351656-68351674
42	CTCF	chr11:68351620-68351770	NHLF	lung:	n/a	chr11:68351656-68351674
43	CTCF	chr11:68351560-68351710	AG09309	skin:	n/a	chr11:68351656-68351674
44	CTCF	chr11:68351560-68351710	K562	blood:	n/a	chr11:68351656-68351674
45	CTCF	chr11:68351600-68351750	RPTEC	kidney:	n/a	chr11:68351656-68351674
46	CTCF	chr11:68351561-68351756	A549	lung:	n/a	chr11:68351656-68351674
47	CTCF	chr11:68351580-68351730	HMF	breast:	n/a	chr11:68351656-68351674
48	CTCF	chr11:68351580-68351730	GM12873	blood:	n/a	chr11:68351656-68351674
49	CTCF	chr11:68351500-68351650	HFF	foreskin:	n/a	n/a
50	CTCF	chr11:68351536-68351820	Gliobla	brain:	n/a	chr11:68351656-68351674

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:68350410-68350460	H1-hESC	embryonic stem cell:	embryo
2	chr11:68350410-68350460	PFSK-1	brain:	n/a
3	chr11:68350410-68350460	IMR90	lung:	fetal
4	chr11:68350410-68350460	Caco-2	colon:	n/a
5	chr11:68350410-68350460	GM12878	blood:	n/a
6	chr11:68350410-68350460	GM12891	blood:	n/a
7	chr11:68350410-68350460	GM12892	blood:	n/a
8	chr11:68350410-68350460	RPTEC	kidney:	n/a
9	chr11:68350410-68350460	SAEC	small airway:	n/a
10	chr11:68350410-68350460	Jurkat	blood:	n/a
11	chr11:68350410-68350460	HRPEpiC	eye:	n/a
12	chr11:68350410-68350460	HUVEC	blood vessel:	n/a
13	chr11:68350410-68350460	ProgFib	skin:	n/a
14	chr11:68350410-68350460	AG09309	skin:	n/a
15	chr11:68350410-68350460	ECC-1	luminal epithelium:	n/a
16	chr11:68350410-68350460	HPAEpiC	pulmonary alveolar:	n/a
17	chr11:68350410-68350460	PANC-1	pancreas:	n/a
18	chr11:68350410-68350460	HepG2	liver:	n/a
19	chr11:68350410-68350460	HRCEpiC	kidney:	n/a
20	chr11:68350410-68350460	PrEC	prostate:	n/a
21	chr11:68350410-68350460	LNCaP	prostate:	n/a
22	chr11:68350410-68350460	A549	lung:	n/a
23	chr11:68350410-68350460	HAEpiC	amniotic membrane:	n/a
24	chr11:68350410-68350460	GM06990	blood:	n/a
25	chr11:68350410-68350460	BJ	skin:	n/a
26	chr11:68350410-68350460	HNPCEpiC	eye:	n/a
27	chr11:68350410-68350460	HCF	heart:	n/a
28	chr11:68350410-68350460	SK-N-MC	brain:	n/a
29	chr11:68350410-68350460	HIPEpiC	eye:	n/a
30	chr11:68350410-68350460	HL-60	blood:	n/a
31	chr11:68350410-68350460	BE2_C	brain:	n/a
32	chr11:68350410-68350460	AG04450	lung:	fetal
33	chr11:68350410-68350460	MCF10A-Er-Src	breast:	n/a
34	chr11:68350410-68350460	CMK	blood:	n/a
35	chr11:68350410-68350460	SKMC	muscle:	n/a
36	chr11:68350410-68350460	HMEC	breast:	n/a
37	chr11:68350410-68350460	T-47D	breast:	n/a
38	chr11:68350410-68350460	NHDF-neo	bronchial:	n/a
39	chr11:68350410-68350460	U87	brain:	n/a
40	chr11:68350410-68350460	HCT-116	colon:	n/a
41	chr11:68350410-68350460	K562	blood:	n/a
42	chr11:68350410-68350460	SK-N-SH	brain:	n/a
43	chr11:68350410-68350460	GM19239	blood:	n/a
44	chr11:68350410-68350460	HEEpiC	esophagus:	n/a
45	chr11:68350410-68350460	AG04449	skin:	fetal
46	chr11:68350410-68350460	SK-N-SH_RA	brain:	n/a
47	chr11:68350410-68350460	NT2-D1	testis:	n/a
48	chr11:68350410-68350460	Hepatocyte	liver:	n/a
49	chr11:68350410-68350460	HCPEpiC	choroid plexus:	n/a
50	chr11:68350410-68350460	HEK293	kidney:	embryo

No.	Distal block	Cell Line	Cell type
1	chr11:68345920..68347842-chr11:68853402..68856193,2	K562	blood:
2	chr11:68345441..68349063-chr11:68349370..68352338,3	MCF-7	breast:
3	chr11:68342082..68344494-chr11:69490270..69491797,2	K562	blood:
4	chr11:68342166..68344146-chr11:68345413..68347616,3	K562	blood:
5	chr11:68345441..68349063-chr11:68349370..68352338,3	MCF-7	breast:
6	chr11:68343924..68346416-chr11:68347081..68348862,2	MCF-7	breast:
7	chr11:68337447..68341541-chr11:68341697..68345653,4	MCF-7	breast:
8	chr11:68343924..68346416-chr11:68347081..68348862,2	MCF-7	breast:
9	chr11:68226828..68228925-chr11:68351073..68354033,2	MCF-7	breast:
10	chr11:68228369..68230583-chr11:68347336..68349286,2	MCF-7	breast:
11	chr11:68343454..68345918-chr11:68348417..68350824,2	MCF-7	breast:
12	chr11:68226755..68229089-chr11:68350474..68353083,2	K562	blood:
13	chr11:68306937..68308679-chr11:68348704..68351247,2	K562	blood:
14	chr11:68343454..68345918-chr11:68348417..68350824,2	MCF-7	breast:
15	chr11:68228026..68228655-chr11:68351562..68352150,2	HCT-116	colon:
16	chr11:68347295..68351656-chr11:68353371..68355649,3	MCF-7	breast:
17	chr11:68335758..68338909-chr11:68341383..68344239,4	K562	blood:

Variant related genes	Relation type
PPP6R3	TF binding region
PPP6R3	CpG island
ENSG00000110075	chromatin interactions

Extended variants
information (count: 296 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:296 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148773288	chr11:68344210-68344211	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs530845942	chr11:68344219-68344220	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs185928239	chr11:68344246-68344247	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs534339783	chr11:68344271-68344272	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs554891233	chr11:68344386-68344387	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs552526074	chr11:68344424-68344425	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs566519794	chr11:68344452-68344453	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs143753962	chr11:68344491-68344492	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190403005	chr11:68344492-68344493	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374069099	chr11:68344493-68344494	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs577291215	chr11:68344608-68344609	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs549448112	chr11:68344618-68344619	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182277116	chr11:68344629-68344630	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs557119242	chr11:68344630-68344631	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs186817738	chr11:68344631-68344632	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs542931393	chr11:68344662-68344663	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs561199580	chr11:68344685-68344686	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs191775103	chr11:68344696-68344697	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs7111525	chr11:68344701-68344702	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs73504499	chr11:68344717-68344718	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140712509	chr11:68344740-68344741	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs541484303	chr11:68344769-68344770	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs182699866	chr11:68344784-68344785	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs563095733	chr11:68344812-68344813	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs530273118	chr11:68344855-68344856	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs559979608	chr11:68344880-68344881	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs548459718	chr11:68344896-68344897	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs566854278	chr11:68344989-68344990	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs144226061	chr11:68345010-68345011	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs115633717	chr11:68345021-68345022	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs570807055	chr11:68345052-68345053	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs538331721	chr11:68345093-68345094	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs556421565	chr11:68345095-68345096	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs575494078	chr11:68345107-68345108	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs111981806	chr11:68345220-68345221	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs536478251	chr11:68345226-68345227	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12146506	chr11:68345231-68345232	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573189778	chr11:68345243-68345244	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs545193327	chr11:68345257-68345258	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs151031484	chr11:68345273-68345274	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs185430880	chr11:68345274-68345275	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs544286191	chr11:68345275-68345276	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs562279590	chr11:68345280-68345281	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12792058	chr11:68345282-68345283	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs530211172	chr11:68345295-68345296	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs548398816	chr11:68345296-68345297	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs545958754	chr11:68345390-68345391	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs369781731	chr11:68345466-68345467	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs564238768	chr11:68345481-68345482	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs527990384	chr11:68345517-68345518	Strong transcription Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Wilms tumour	21544195	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Glioblastoma multiforme	21138945	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	21637783	CNVD
Acute myeloid leukemia	16864856	CNVD
Chronic lymphocytic leukemia	21795749	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21484798	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
Glioblastoma multiforme	19960244	CNVD
Liposarcoma	21253554	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Neuroblastoma	17533364	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	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
Myelofibrosis	22110671	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
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
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	22860045	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	21399695	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21373257	CNVD
speech delay	21373257	CNVD
small cell lung cancer	17426248	CNVD
Gastric cancer	18160780	CNVD
Lung cancer	21569311	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	21858162	CNVD

Chromatin state (count:492 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:68310400-68347800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:68313400-68356200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:68314000-68347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:68314000-68348000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:68314200-68351400	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
11	chr11:68317200-68350200	Strong transcription	Fetal Intestine Large	intestine
12	chr11:68317400-68349600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
14	chr11:68318000-68351400	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
16	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
19	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
20	chr11:68319800-68384000	Strong transcription	Liver	Liver
21	chr11:68321000-68361800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr11:68321400-68347600	Strong transcription	HSMM	muscle
23	chr11:68323800-68349200	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:68324200-68349800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:68324400-68362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr11:68324600-68361600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr11:68325600-68361200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr11:68328600-68350000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr11:68328800-68348000	Strong transcription	Primary hematopoietic stem cells	blood
30	chr11:68328800-68348200	Strong transcription	Hela-S3	cervix
31	chr11:68328800-68362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
32	chr11:68328800-68380600	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr11:68330200-68355600	Strong transcription	HepG2	liver
35	chr11:68330400-68348000	Strong transcription	Adipose Nuclei	Adipose
36	chr11:68333800-68384000	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr11:68334200-68347800	Strong transcription	Fetal Lung	lung
39	chr11:68336800-68351200	Strong transcription	Primary B cells from peripheral blood	blood
40	chr11:68336800-68383800	Strong transcription	Dnd41	blood
41	chr11:68337000-68344400	Strong transcription	Fetal Kidney	kidney
42	chr11:68337000-68384000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr11:68337200-68347600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:68337200-68360600	Strong transcription	Primary T cells from cord blood	blood
45	chr11:68337200-68381000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr11:68337200-68384000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr11:68337400-68351200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr11:68337400-68361800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr11:68337400-68383400	Strong transcription	Primary T helper cells fromperipheralblood	blood
50	chr11:68337400-68383800	Strong transcription	Primary T helper cells PMA-I stimulated	--

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