Variant report

Variant	nsv897585
Chromosome Location	chr11:51200820-51379204
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:276)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:276 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
2	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
3	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
4	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
6	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
7	BCL11A	chr11:51250210-51250379	GM12878	blood:	n/a	n/a
8	BHLHE40	chr11:51365084-51365098	K562	blood:	n/a	n/a
9	BHLHE40	chr11:51292058-51292433	K562	blood:	n/a	n/a
10	BRCA1	chr11:51219236-51219610	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr11:51292060-51292433	K562	blood:	n/a	n/a
12	CEBPB	chr11:51250144-51250513	H1-hESC	embryonic stem cell:	n/a	n/a
13	CHD1	chr11:51250145-51250515	H1-hESC	embryonic stem cell:	n/a	n/a
14	CHD1	chr11:51250149-51250349	GM12878	blood:	n/a	n/a
15	CHD2	chr11:51292059-51292433	K562	blood:	n/a	n/a
16	CHD2	chr11:51219237-51219610	Hela-S3	cervix:	n/a	n/a
17	CHD2	chr11:51365084-51365111	K562	blood:	n/a	n/a
18	CHD2	chr11:51250313-51250347	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr11:51263880-51264030	BE2_C	brain:	n/a	n/a
20	CTCF	chr11:51264011-51264072	HepG2	liver:	n/a	n/a
21	CTCF	chr11:51274589-51274614	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:51263880-51264030	Hela-S3	cervix:	n/a	n/a
23	CTCF	chr11:51263860-51264010	GM12875	blood:	n/a	n/a
24	CTCF	chr11:51274660-51274810	GM12867	blood:	n/a	n/a
25	CTCF	chr11:51263982-51264077	A549	lung:	n/a	n/a
26	CTCF	chr11:51281140-51281290	GM12865	blood:	n/a	n/a
27	CTCF	chr11:51263860-51264010	GM12878	blood:	n/a	n/a
28	CTCF	chr11:51264000-51264057	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr11:51263824-51264186	K562	blood:	n/a	n/a
30	CTCF	chr11:51263880-51264030	GM12874	blood:	n/a	n/a
31	CTCF	chr11:51292059-51292433	K562	blood:	n/a	n/a
32	CTCF	chr11:51263880-51264030	HMF	breast:	n/a	n/a
33	CTCF	chr11:51264002-51264039	K562	blood:	n/a	n/a
34	CTCF	chr11:51246378-51246410	Kidney_OC	kidney:	n/a	n/a
35	CTCF	chr11:51263920-51264070	GM12866	blood:	n/a	n/a
36	CTCF	chr11:51263880-51264030	GM12865	blood:	n/a	n/a
37	CTCF	chr11:51263920-51264070	GM12873	blood:	n/a	n/a
38	CTCF	chr11:51263900-51264050	RPTEC	kidney:	n/a	n/a
39	CTCF	chr11:51263980-51264130	WERI-Rb-1	eye:	n/a	n/a
40	CTCF	chr11:51263880-51264030	NB4	blood:	n/a	n/a
41	CTCF	chr11:51263985-51264072	GM12892	blood:	n/a	n/a
42	CTCF	chr11:51263972-51263978	GM12892	blood:	n/a	n/a
43	CTCF	chr11:51274572-51274641	GM13976	blood:	n/a	n/a
44	CTCF	chr11:51263880-51264030	HEK293	kidney:	n/a	n/a
45	CTCF	chr11:51263860-51264010	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr11:51263880-51264030	GM12868	blood:	n/a	n/a
47	CTCF	chr11:51263948-51264123	LNCaP	prostate:	n/a	n/a
48	CTCF	chr11:51263990-51264020	ProgFib	skin:	n/a	n/a
49	CTCF	chr11:51263966-51264055	Fibrobl	skin:	n/a	n/a
50	CTCF	chr11:51263880-51264030	GM12872	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 8407 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:8407 , 50 per page) page: 1 2 3 4 5 6 7 ... 169

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11534644	chr11:51200820-51200821	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs180827297	chr11:51200822-51200823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs112060815	chr11:51200823-51200824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs556605553	chr11:51200831-51200832	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs61917576	chr11:51200839-51200840	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs61917577	chr11:51200843-51200844	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs61917578	chr11:51200853-51200854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs188663452	chr11:51200858-51200859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs61917579	chr11:51200859-51200860	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs555349532	chr11:51200875-51200876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs572237509	chr11:51200902-51200903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs540852398	chr11:51200909-51200910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs370379435	chr11:51200910-51200911	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7294212	chr11:51200911-51200912	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs147699575	chr11:51200912-51200913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs142396927	chr11:51200927-51200928	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs528862090	chr11:51200937-51200938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs542545319	chr11:51200939-51200940	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs564371414	chr11:51200958-51200959	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs553726259	chr11:51200998-51200999	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527961166	chr11:51201019-51201020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs367895077	chr11:51201021-51201022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs548012399	chr11:51201061-51201062	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs74528824	chr11:51201087-51201088	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs79176447	chr11:51201093-51201094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112580697	chr11:51201113-51201114	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs76324439	chr11:51201114-51201115	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs7293989	chr11:51201119-51201120	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs533504052	chr11:51201137-51201138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs181727189	chr11:51201152-51201153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371775269	chr11:51201158-51201159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs570058172	chr11:51201162-51201163	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs535463030	chr11:51201172-51201173	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147870975	chr11:51201175-51201176	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs576471702	chr11:51201197-51201198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs534567548	chr11:51201214-51201215	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs186132474	chr11:51201218-51201219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs191642122	chr11:51201228-51201229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs536778564	chr11:51201272-51201273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs183975600	chr11:51201308-51201309	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs114614818	chr11:51201312-51201313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111505993	chr11:51201324-51201325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552497537	chr11:51201353-51201354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs555790110	chr11:51201354-51201355	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs559254257	chr11:51201389-51201390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs537166951	chr11:51201406-51201407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs4303222	chr11:51201423-51201424	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs531778769	chr11:51201425-51201426	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs117130390	chr11:51201426-51201427	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs555233573	chr11:51201449-51201450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

Disease	PMID	Source
Chordoma	21602918	CNVD
Breast cancer	21949216	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	19222835	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Beckwith-Wiedemann syndrome	21518781	CNVD
Wilms tumour	21518781	CNVD
Hepatoblastoma	21518781	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Multiple myeloma	20724749	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Autism	22495311	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Non-small cell lung cancer	21385341	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Potocki-Shaffer syndrome	19222835	CNVD
WAGR syndrome	19222835	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Hirschsprung''s Disease	21712996	CNVD
Follicular lymphoma	20505157	CNVD
Colorectal cancer	21128281	CNVD
Glioblastoma multiforme	21138945	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
small cell lung cancer	20016488	CNVD
Mortal	21835882	CNVD
Breast cancer	21785460	CNVD
Esophageal cancer	21851588	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	17142309	CNVD
Bipolar disorder	19214233	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:51191000-51222800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:51194400-51205400	ZNF genes & repeats	Liver	Liver
3	chr11:51198000-51203200	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:51199000-51203200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
5	chr11:51202200-51202600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr11:51204000-51205200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
7	chr11:51206200-51209200	ZNF genes & repeats	Liver	Liver
8	chr11:51206600-51207000	Active TSS	Fetal Heart	heart
9	chr11:51206800-51211800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr11:51208800-51209800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:51210000-51212000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:51210400-51220200	ZNF genes & repeats	Liver	Liver
13	chr11:51211200-51216200	ZNF genes & repeats	Adipose Nuclei	Adipose
14	chr11:51212800-51223200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr11:51213000-51217000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:51213400-51221000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr11:51219200-51221400	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:51219400-51219600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr11:51219400-51219600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
20	chr11:51226800-51229000	ZNF genes & repeats	Adipose Nuclei	Adipose
21	chr11:51226800-51230000	ZNF genes & repeats	Liver	Liver
22	chr11:51227000-51228400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
23	chr11:51229000-51245600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:51231000-51232800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
25	chr11:51232000-51236800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
26	chr11:51232000-51237600	ZNF genes & repeats	Liver	Liver
27	chr11:51232800-51239000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
28	chr11:51233600-51234000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
29	chr11:51234000-51234400	Active TSS	Aorta	Aorta
30	chr11:51235600-51237800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr11:51237200-51241600	ZNF genes & repeats	Adipose Nuclei	Adipose
32	chr11:51238600-51241400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
33	chr11:51241200-51241800	Active TSS	Aorta	Aorta
34	chr11:51242000-51245200	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr11:51248600-51251000	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr11:51248600-51256800	ZNF genes & repeats	Liver	Liver
37	chr11:51248800-51249200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
38	chr11:51249800-51251000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
39	chr11:51249800-51257000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:51250000-51256400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr11:51250000-51256800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
42	chr11:51250200-51250400	ZNF genes & repeats	Brain Cingulate Gyrus	brain
43	chr11:51250200-51250400	ZNF genes & repeats	HUVEC	blood vessel
44	chr11:51250200-51250600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr11:51250200-51250600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:51250200-51250600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:51250200-51250600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
48	chr11:51250200-51250600	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr11:51250200-51250600	ZNF genes & repeats	Brain Anterior Caudate	brain
50	chr11:51250200-51250600	ZNF genes & repeats	Left Ventricle	heart

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