Variant report

Variant	nsv1048333
Chromosome Location	chr11:50651567-51337246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2344)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2344 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

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	chr11:50721580-50721799	K562	blood:	n/a	n/a
4	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
5	ATF1	chr11:50741510-50741536	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	chr11:50757990-50758182	K562	blood:	n/a	n/a
9	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
10	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
11	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
12	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
13	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
15	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
16	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
17	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
18	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
19	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
20	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
21	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
22	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
23	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
24	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
25	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
26	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
27	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
28	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
29	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
30	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
31	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
32	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
33	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
34	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
35	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
36	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
37	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
38	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
39	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
40	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
41	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
42	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
43	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
44	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
45	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
46	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
47	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
48	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
49	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
50	BATF	chr11:51250243-51250386	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: 21521 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:21521 , 50 per page) page: 1 2 3 4 5 6 7 ... 431

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12792264	chr11:50651567-50651568	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs550172449	chr11:50651575-50651576	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs76215153	chr11:50651582-50651583	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571654377	chr11:50651594-50651595	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs191716398	chr11:50651597-50651598	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142820720	chr11:50651605-50651606	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111491612	chr11:50651610-50651611	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549536041	chr11:50651614-50651615	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566104323	chr11:50651631-50651632	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183888014	chr11:50651632-50651633	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs193278796	chr11:50651664-50651665	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551851375	chr11:50651675-50651676	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs200501361	chr11:50651701-50651702	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs201469147	chr11:50651702-50651703	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571777654	chr11:50651715-50651716	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537433258	chr11:50651717-50651718	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs151026611	chr11:50651720-50651721	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573858539	chr11:50651761-50651762	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536188874	chr11:50651766-50651767	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs4980486	chr11:50651768-50651769	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572675300	chr11:50651771-50651772	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs4980487	chr11:50651776-50651777	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201961084	chr11:50651799-50651800	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564599887	chr11:50651815-50651816	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575038198	chr11:50651816-50651817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543781584	chr11:50651817-50651818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs4980459	chr11:50651820-50651821	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs61894487	chr11:50651836-50651837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs549382041	chr11:50651867-50651868	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs559997266	chr11:50651868-50651869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs528654564	chr11:50651886-50651887	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556766169	chr11:50651889-50651890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs552044061	chr11:50651891-50651892	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs201007401	chr11:50651913-50651914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs201561583	chr11:50651914-50651915	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571765549	chr11:50651921-50651922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs373980811	chr11:50651926-50651927	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs199954469	chr11:50651931-50651932	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs541011780	chr11:50651950-50651951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs76957485	chr11:50651953-50651954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs555233024	chr11:50651972-50651973	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs201875296	chr11:50651973-50651974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs78278790	chr11:50651975-50651976	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75596557	chr11:50651984-50651985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs77267062	chr11:50651987-50651988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550937928	chr11:50651990-50651991	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs113933808	chr11:50652003-50652004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs558428223	chr11:50652006-50652007	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs80161914	chr11:50652007-50652008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs74660911	chr11:50652011-50652012	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
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:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50641800-50652400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr11:50642000-50653800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr11:50643800-50652000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:50651200-50651800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:50651200-50652000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr11:50651400-50651600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
7	chr11:50651400-50651800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr11:50651400-50651800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:50651400-50651800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
10	chr11:50651400-50651800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr11:50651400-50651800	ZNF genes & repeats	HUVEC	blood vessel
12	chr11:50651400-50652000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
13	chr11:50660000-50663000	Weak transcription	Stomach Mucosa	stomach
14	chr11:50660800-50662000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr11:50661200-50661600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr11:50661200-50661600	Active TSS	Aorta	Aorta
17	chr11:50661200-50661600	ZNF genes & repeats	Liver	Liver
18	chr11:50661200-50661600	Active TSS	Right Atrium	heart
19	chr11:50661200-50661800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr11:50667400-50672200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr11:50668200-50670200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr11:50668600-50670600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr11:50668600-50672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr11:50669200-50669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:50669400-50671400	ZNF genes & repeats	HepG2	liver
26	chr11:50669600-50669800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:50671000-50671400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
28	chr11:50671000-50671400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:50671000-50671400	ZNF genes & repeats	Fetal Heart	heart
30	chr11:50671000-50672200	ZNF genes & repeats	Liver	Liver
31	chr11:50671400-50676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr11:50673400-50681800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
33	chr11:50673600-50679200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
34	chr11:50674000-50678800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:50675000-50676400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:50676000-50677000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:50676000-50679000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
38	chr11:50676200-50676600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
39	chr11:50676200-50676600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:50676200-50676600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
41	chr11:50676200-50678800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:50676400-50676600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr11:50676400-50676800	ZNF genes & repeats	Primary T cells from cord blood	blood
44	chr11:50678200-50678400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr11:50678200-50678600	Active TSS	Aorta	Aorta
46	chr11:50681400-50681600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
47	chr11:50681600-50681800	Active TSS	Brain Angular Gyrus	brain
48	chr11:50684800-50692800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
49	chr11:50685600-50697600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:50688400-50688800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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