Variant report

Variant	nsv1036505
Chromosome Location	chr11:50702275-51353318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1815)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1815 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr11:50712564-50712666	K562	blood:	n/a	n/a
2	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
3	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
4	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
5	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
6	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
7	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
8	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
9	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
10	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
11	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
12	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
13	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
14	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
15	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
16	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
17	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
18	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
19	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
20	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
21	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
22	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
23	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
24	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
25	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
26	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
27	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
28	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
29	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
30	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
31	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
32	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
33	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
34	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
35	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
36	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
37	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
38	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
39	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
40	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
41	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
42	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
43	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
44	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
45	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
46	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
47	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
48	BCL11A	chr11:50742998-50743385	GM12878	blood:	n/a	n/a
49	BCL11A	chr11:50770619-50771168	GM12878	blood:	n/a	n/a
50	BCL11A	chr11:51199021-51199258	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:50731452..50731974-chr8:46856234..46856754,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 18306 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:18306 , 50 per page) page: 1 2 3 4 5 6 7 ... 367

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35203335	chr11:50709602-50709603	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs140110062	chr11:50709613-50709614	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572042270	chr11:50709614-50709615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs373923429	chr11:50709635-50709636	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs541159944	chr11:50709652-50709653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs190509089	chr11:50709658-50709659	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537914689	chr11:50709665-50709666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs554622244	chr11:50709677-50709678	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs180985186	chr11:50709681-50709682	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs564106333	chr11:50709688-50709689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs185217981	chr11:50709696-50709697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553676138	chr11:50709719-50709720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573442890	chr11:50709726-50709727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551284760	chr11:50709728-50709729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs190423764	chr11:50709730-50709731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181218150	chr11:50709735-50709736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs116076108	chr11:50709756-50709757	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564022838	chr11:50709757-50709758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs145507874	chr11:50709767-50709768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs74791879	chr11:50709768-50709769	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs528846842	chr11:50709778-50709779	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs76614910	chr11:50709788-50709789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566795872	chr11:50709789-50709790	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140809562	chr11:50709795-50709796	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs142298425	chr11:50709798-50709799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs151242727	chr11:50709801-50709802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs2313926	chr11:50709816-50709817	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs548262080	chr11:50709853-50709854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs61892437	chr11:50709877-50709878	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533825835	chr11:50709884-50709885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs553467428	chr11:50709896-50709897	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs140411625	chr11:50709909-50709910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs186334001	chr11:50709914-50709915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs558733952	chr11:50709929-50709930	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs575384519	chr11:50709935-50709936	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs544394991	chr11:50709940-50709941	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs561084013	chr11:50709941-50709942	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs574824715	chr11:50709950-50709951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs74629501	chr11:50709956-50709957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs191588118	chr11:50709966-50709967	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs560260895	chr11:50709980-50709981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs371005179	chr11:50709985-50709986	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs532454330	chr11:50709997-50709998	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs2080537	chr11:50709998-50709999	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs35443377	chr11:50710007-50710008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs571514387	chr11:50710039-50710040	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs562677291	chr11:50710095-50710096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs531583166	chr11:50710099-50710100	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs12799098	chr11:50710101-50710102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs183553611	chr11:50710104-50710105	ZNF genes & repeats	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:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50709600-50752200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr11:50710400-50711000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:50710400-50718000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:50711400-50711600	ZNF genes & repeats	HepG2	liver
5	chr11:50716800-50717200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:50717200-50722000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:50717600-50729000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr11:50717800-50726200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
9	chr11:50718200-50718400	ZNF genes & repeats	HepG2	liver
10	chr11:50720800-50730000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:50721600-50721800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:50721600-50722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr11:50721600-50723800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
14	chr11:50721600-50724800	ZNF genes & repeats	Liver	Liver
15	chr11:50722000-50723200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr11:50722400-50724200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
17	chr11:50722600-50725800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:50722800-50723200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
19	chr11:50722800-50723200	Active TSS	NHDF-Ad	bronchial
20	chr11:50724200-50724800	Enhancers	Aorta	Aorta
21	chr11:50724600-50726000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:50724800-50725600	ZNF genes & repeats	Primary T cells from cord blood	blood
23	chr11:50724800-50738400	Weak transcription	Aorta	Aorta
24	chr11:50725600-50725800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:50730800-50737000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:50730800-50770200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
27	chr11:50731000-50731200	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr11:50731000-50731400	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr11:50731000-50731400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
30	chr11:50731000-50731600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
31	chr11:50731000-50732000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
32	chr11:50732200-50732600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:50733600-50738400	Weak transcription	NH-A	brain
34	chr11:50734200-50734400	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:50734400-50734600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
36	chr11:50734600-50738400	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr11:50735800-50741600	Weak transcription	NHDF-Ad	bronchial
38	chr11:50736200-50737000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr11:50736600-50737000	ZNF genes & repeats	GM12878-XiMat	blood
40	chr11:50737000-50738400	Weak transcription	GM12878-XiMat	blood
41	chr11:50738000-50747600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr11:50738200-50738800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr11:50738200-50739000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:50738400-50738600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
45	chr11:50738400-50738600	Flanking Active TSS	Aorta	Aorta
46	chr11:50738400-50738600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
47	chr11:50738400-50738800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:50738400-50738800	Active TSS	Psoas Muscle	Psoas
49	chr11:50738400-50738800	Active TSS	Stomach Mucosa	stomach
50	chr11:50738400-50738800	ZNF genes & repeats	GM12878-XiMat	blood

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