Variant report

Variant	nsv897579
Chromosome Location	chr11:50766308-51365437
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:779)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:779 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

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	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
4	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
5	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
6	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
7	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
9	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
10	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
11	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
12	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
13	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
14	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
15	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
16	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
17	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
18	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
19	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
20	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
21	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
22	BCL11A	chr11:50772281-50772426	GM12878	blood:	n/a	n/a
23	BCL11A	chr11:50779519-50779815	GM12878	blood:	n/a	n/a
24	BCL11A	chr11:50770619-50771168	GM12878	blood:	n/a	n/a
25	BCL11A	chr11:50767581-50767896	GM12878	blood:	n/a	n/a
26	BCL11A	chr11:50780731-50781065	GM12878	blood:	n/a	n/a
27	BCL11A	chr11:50767496-50767945	GM12878	blood:	n/a	n/a
28	BCL11A	chr11:51250210-51250379	GM12878	blood:	n/a	n/a
29	BCL11A	chr11:51199021-51199258	GM12878	blood:	n/a	n/a
30	BCL11A	chr11:50779445-50779875	GM12878	blood:	n/a	n/a
31	BCL11A	chr11:51199061-51199240	GM12878	blood:	n/a	n/a
32	BHLHE40	chr11:50780464-50780835	K562	blood:	n/a	n/a
33	BHLHE40	chr11:50767572-50767916	HepG2	liver:	n/a	n/a
34	BHLHE40	chr11:51199086-51199260	HepG2	liver:	n/a	n/a
35	BHLHE40	chr11:50770138-50770350	HepG2	liver:	n/a	n/a
36	BHLHE40	chr11:50772271-50772446	HepG2	liver:	n/a	n/a
37	BHLHE40	chr11:50770807-50771046	HepG2	liver:	n/a	n/a
38	BHLHE40	chr11:50779436-50779823	HepG2	liver:	n/a	n/a
39	BHLHE40	chr11:51365084-51365098	K562	blood:	n/a	n/a
40	BHLHE40	chr11:51292058-51292433	K562	blood:	n/a	n/a
41	BHLHE40	chr11:50769673-50770049	K562	blood:	n/a	n/a
42	BHLHE40	chr11:50780806-50781011	HepG2	liver:	n/a	n/a
43	BRCA1	chr11:50769674-50770048	Hela-S3	cervix:	n/a	n/a
44	BRCA1	chr11:51219236-51219610	Hela-S3	cervix:	n/a	n/a
45	CEBPB	chr11:51250144-51250513	H1-hESC	embryonic stem cell:	n/a	n/a
46	CEBPB	chr11:50771546-50771597	A549	lung:	n/a	n/a
47	CEBPB	chr11:51292060-51292433	K562	blood:	n/a	n/a
48	CEBPD	chr11:50779584-50779865	K562	blood:	n/a	n/a
49	CEBPD	chr11:50767572-50767961	K562	blood:	n/a	n/a
50	CHD1	chr11:51250145-51250515	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 10815 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:10815 , 50 per page) page: 1 2 3 4 5 6 7 ... 217

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11245882	chr11:50766308-50766309	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549466806	chr11:50766310-50766311	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569382531	chr11:50766318-50766319	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12287766	chr11:50766324-50766325	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs199694205	chr11:50766334-50766335	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186627502	chr11:50766335-50766336	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150692357	chr11:50766356-50766357	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs534556077	chr11:50766361-50766362	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs61918061	chr11:50766362-50766363	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs552707500	chr11:50766371-50766372	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs571004385	chr11:50766384-50766385	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs116399590	chr11:50766388-50766389	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368622855	chr11:50766396-50766397	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs540486759	chr11:50766404-50766405	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542329806	chr11:50766411-50766412	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200567439	chr11:50766417-50766418	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562143348	chr11:50766419-50766420	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs549152305	chr11:50766426-50766427	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs113910838	chr11:50766428-50766429	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs527685514	chr11:50766429-50766430	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs541359908	chr11:50766432-50766433	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs71483048	chr11:50766438-50766439	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532338754	chr11:50766443-50766444	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111519194	chr11:50766470-50766471	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532376317	chr11:50766495-50766496	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs149666752	chr11:50766514-50766515	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs115536341	chr11:50766519-50766520	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114467602	chr11:50766523-50766524	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143911679	chr11:50766533-50766534	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145281065	chr11:50766539-50766540	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143649281	chr11:50766541-50766542	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs531933908	chr11:50766543-50766544	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139506942	chr11:50766544-50766545	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs140658629	chr11:50766545-50766546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146582924	chr11:50766555-50766556	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs142279968	chr11:50766557-50766558	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149753292	chr11:50766560-50766561	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141318109	chr11:50766561-50766562	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs150473644	chr11:50766562-50766563	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs10902060	chr11:50766563-50766564	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113290996	chr11:50766570-50766571	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs146820753	chr11:50766572-50766573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139276070	chr11:50766582-50766583	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144462417	chr11:50766585-50766586	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75871677	chr11:50766588-50766589	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375737402	chr11:50766595-50766596	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs76764574	chr11:50766610-50766611	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139636052	chr11:50766618-50766619	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530877256	chr11:50766636-50766637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565709582	chr11:50766644-50766645	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Breast cancer	21364760	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
Medulloblastoma	21163964	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:223 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50730800-50770200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr11:50741200-50772800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:50746000-50769600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:50752800-50771800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:50759000-50767800	Weak transcription	Right Ventricle	heart
6	chr11:50764000-50783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:50765000-50767600	Weak transcription	Colon Smooth Muscle	Colon
8	chr11:50765600-50767600	Weak transcription	HUVEC	blood vessel
9	chr11:50766800-50768000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
10	chr11:50767000-50768600	ZNF genes & repeats	Fetal Brain Male	brain
11	chr11:50767600-50768000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:50767600-50768000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr11:50767600-50768000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:50767600-50768000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr11:50767600-50768200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr11:50767600-50768200	ZNF genes & repeats	Brain Cingulate Gyrus	brain
17	chr11:50767600-50768200	ZNF genes & repeats	Brain Substantia Nigra	brain
18	chr11:50767600-50768200	ZNF genes & repeats	HUVEC	blood vessel
19	chr11:50767600-50768600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr11:50767800-50768000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
21	chr11:50767800-50768000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
22	chr11:50767800-50768000	ZNF genes & repeats	Fetal Heart	heart
23	chr11:50767800-50768000	Active TSS	Right Ventricle	heart
24	chr11:50768000-50768600	ZNF genes & repeats	NH-A	brain
25	chr11:50768600-50769600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:50768600-50778800	Weak transcription	NH-A	brain
27	chr11:50769600-50770800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr11:50770400-50771600	ZNF genes & repeats	HUVEC	blood vessel
29	chr11:50771200-50771800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:50771400-50772600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr11:50771400-50772600	ZNF genes & repeats	Liver	Liver
32	chr11:50771600-50771800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
33	chr11:50771600-50772200	Weak transcription	GM12878-XiMat	blood
34	chr11:50771800-50778800	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:50772600-50778400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr11:50772600-50778800	Weak transcription	Liver	Liver
37	chr11:50772800-50778800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:50773800-50783400	Weak transcription	GM12878-XiMat	blood
39	chr11:50778400-50779200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
40	chr11:50778400-50783600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr11:50778600-50779400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr11:50778600-50779400	ZNF genes & repeats	HepG2	liver
43	chr11:50778600-50779600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr11:50778600-50783600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
45	chr11:50778600-50783800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
46	chr11:50778600-50783800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
47	chr11:50778800-50779000	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:50778800-50779000	Flanking Active TSS	NH-A	brain
49	chr11:50778800-50779200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:50778800-50779200	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood

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