Variant report

Variant	nsv897533
Chromosome Location	chr11:50386833-51385894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2731)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2731 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

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	ARID3A	chr11:50712564-50712666	K562	blood:	n/a	n/a
3	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
4	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
5	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
6	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
7	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
8	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
9	ATF1	chr11:50409411-50409611	K562	blood:	n/a	n/a
10	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
11	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
12	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
13	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
14	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
15	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
16	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
17	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
18	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
19	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
20	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
21	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
22	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
23	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
24	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
25	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
26	BATF	chr11:50676256-50676541	GM12878	blood:	n/a	n/a
27	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
28	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
29	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
30	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
31	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
32	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
33	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
34	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
35	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
36	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
37	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
38	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
39	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
40	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
41	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
42	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
43	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
44	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
45	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
46	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
47	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
48	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
49	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
50	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a

No data

(count:2 , 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:
2	chr11:50670378..50671219-chr4:101762576..101763076,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264637	TF binding region

Extended variants
information (count: 37510 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:37510 , 50 per page) page: 1 2 3 4 5 6 7 ... 751

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2773516	chr11:50386833-50386834	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183403112	chr11:50386848-50386849	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs565663448	chr11:50386860-50386861	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs79561405	chr11:50386883-50386884	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs185561068	chr11:50386909-50386910	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs142674100	chr11:50386926-50386927	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs200367205	chr11:50386963-50386964	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs571160548	chr11:50386972-50386973	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs537049528	chr11:50387041-50387042	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs556822792	chr11:50387042-50387043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs115237078	chr11:50387064-50387065	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542470929	chr11:50387075-50387076	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs544983005	chr11:50387081-50387082	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113144205	chr11:50387117-50387118	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572644756	chr11:50387118-50387119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs557432832	chr11:50387176-50387177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs11601003	chr11:50387182-50387183	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564753242	chr11:50387216-50387217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs691038	chr11:50387218-50387219	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs543790722	chr11:50387220-50387221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs200688868	chr11:50387258-50387259	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs563290037	chr11:50387271-50387272	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs201644505	chr11:50387273-50387274	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs375306595	chr11:50387276-50387277	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs199835805	chr11:50387296-50387297	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs691047	chr11:50387298-50387299	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs529323745	chr11:50387302-50387303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs57624414	chr11:50387306-50387307	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs565551882	chr11:50387309-50387310	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs574289215	chr11:50387312-50387313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs541659105	chr11:50387323-50387324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs551435455	chr11:50387365-50387366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs200788996	chr11:50387373-50387374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201736138	chr11:50387374-50387375	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs199869271	chr11:50387375-50387376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs147946955	chr11:50387376-50387377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs536684922	chr11:50387385-50387386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs556897434	chr11:50387387-50387388	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs567123994	chr11:50387393-50387394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536368625	chr11:50387421-50387422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs553064982	chr11:50387440-50387441	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs572680964	chr11:50387459-50387460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12421608	chr11:50387477-50387478	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs558208009	chr11:50387487-50387488	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs113086946	chr11:50387491-50387492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs578184549	chr11:50387493-50387494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs560062200	chr11:50387497-50387498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs189972964	chr11:50387513-50387514	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528701971	chr11:50387525-50387526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs529213641	chr11:50387537-50387538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
T-cell prolymphocytic leukemia	19278963	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Mortal	21835882	CNVD
Autism	22495309	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Cancer	20164919	CNVD
Williams Syndrome	20824207	CNVD
Schizophrenia	21346763	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:704 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50386400-50387000	Active TSS	Right Atrium	heart
2	chr11:50386600-50394400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
3	chr11:50387200-50393600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr11:50388000-50391000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr11:50388000-50392600	ZNF genes & repeats	Adipose Nuclei	Adipose
6	chr11:50388800-50390400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
7	chr11:50391600-50393600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:50393600-50398600	ZNF genes & repeats	Adipose Nuclei	Adipose
9	chr11:50394400-50398000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:50400200-50400800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:50406200-50417200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:50406600-50411800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:50408200-50417200	ZNF genes & repeats	Liver	Liver
14	chr11:50409800-50410400	Active TSS	Aorta	Aorta
15	chr11:50409800-50412600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
16	chr11:50410200-50417400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
17	chr11:50410200-50417800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr11:50413200-50413800	Active TSS	Aorta	Aorta
19	chr11:50413200-50414800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:50416600-50417200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:50418800-50424200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr11:50419600-50423400	ZNF genes & repeats	Adipose Nuclei	Adipose
23	chr11:50419600-50431000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:50420000-50423600	ZNF genes & repeats	Liver	Liver
25	chr11:50420200-50421200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:50423000-50426000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
27	chr11:50423600-50425400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr11:50426000-50427000	ZNF genes & repeats	Adipose Nuclei	Adipose
29	chr11:50428000-50428800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
30	chr11:50435400-50442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:50436000-50438200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
32	chr11:50437400-50438000	ZNF genes & repeats	HepG2	liver
33	chr11:50437600-50438000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
34	chr11:50437600-50438000	ZNF genes & repeats	Adipose Nuclei	Adipose
35	chr11:50437600-50438000	ZNF genes & repeats	HUVEC	blood vessel
36	chr11:50437600-50438200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr11:50437600-50444000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
38	chr11:50437800-50438000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr11:50437800-50438000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
40	chr11:50437800-50438000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:50437800-50438000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
45	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
47	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
48	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
49	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
50	chr11:50437800-50438000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood

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