Variant report

Variant	nsv1037231
Chromosome Location	chr11:50398202-51319588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2703)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2703 , 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	chr11:50712564-50712666	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	chr11:50409411-50409611	K562	blood:	n/a	n/a
5	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
6	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
7	ATF1	chr11:50767721-50767932	K562	blood:	n/a	n/a
8	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
9	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
10	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
11	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
12	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
13	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
14	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
15	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
16	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
17	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
18	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
19	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
20	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
21	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
22	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
23	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
24	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
25	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
26	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
27	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
28	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
29	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
30	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
31	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
32	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
33	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
34	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
35	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
36	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
37	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
38	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
39	BATF	chr11:50770838-50771135	GM12878	blood:	n/a	n/a
40	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
41	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
42	BATF	chr11:50685636-50685821	GM12878	blood:	n/a	n/a
43	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
44	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
45	BATF	chr11:50757466-50757719	GM12878	blood:	n/a	n/a
46	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
47	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
48	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
49	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
50	BATF	chr11:50779460-50779823	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	chr11:50670378..50671219-chr4:101762576..101763076,2	MCF-7	breast:
2	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: 35048 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:35048 , 50 per page) page: 1 2 3 4 5 6 7 ... 701

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35704770	chr11:50398203-50398204	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550339231	chr11:50398337-50398338	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs569511749	chr11:50398348-50398349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535542206	chr11:50398349-50398350	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs189140581	chr11:50398358-50398359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs143499783	chr11:50398359-50398360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534373718	chr11:50398373-50398374	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs536477014	chr11:50398376-50398377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs148000188	chr11:50398383-50398384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs545715	chr11:50398404-50398405	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11513028	chr11:50398406-50398407	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs191845701	chr11:50398413-50398414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs545685	chr11:50398419-50398420	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs61892045	chr11:50398430-50398431	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs545630	chr11:50398442-50398443	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374531979	chr11:50398448-50398449	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182332093	chr11:50398450-50398451	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs547212584	chr11:50398456-50398457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs8189198	chr11:50398469-50398470	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs114370790	chr11:50398485-50398486	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs114936833	chr11:50398500-50398501	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs138525830	chr11:50398557-50398558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528870931	chr11:50398561-50398562	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs549094394	chr11:50398563-50398564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs565615590	chr11:50398590-50398591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs558803951	chr11:50400232-50400233	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs77593390	chr11:50400235-50400236	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs544170904	chr11:50400272-50400273	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs535061756	chr11:50400282-50400283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs149071493	chr11:50400323-50400324	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs372020626	chr11:50400330-50400331	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs144663644	chr11:50400350-50400351	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs539902504	chr11:50400357-50400358	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs551752048	chr11:50400366-50400367	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs114964096	chr11:50400372-50400373	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs559581281	chr11:50400376-50400377	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs545335056	chr11:50400383-50400384	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs11534603	chr11:50400393-50400394	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs531083630	chr11:50400394-50400395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs189754121	chr11:50400395-50400396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138531937	chr11:50400399-50400400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs141481201	chr11:50400414-50400415	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs570684997	chr11:50400415-50400416	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547110010	chr11:50400422-50400423	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs566711780	chr11:50400473-50400474	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs182159514	chr11:50400493-50400494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs188317333	chr11:50400506-50400507	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs539706629	chr11:50400521-50400522	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs79175374	chr11:50400547-50400548	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs145173011	chr11:50400551-50400552	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:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

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

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