Variant report

Variant	nsv1037874
Chromosome Location	chr11:50658777-51337246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2301)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2301 , 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	chr11:50712564-50712666	K562	blood:	n/a	n/a
2	ARID3A	chr11:51250147-51250516	HepG2	liver:	n/a	n/a
3	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
4	ATF1	chr11:50757990-50758182	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	chr11:50755176-50755720	K562	blood:	n/a	n/a
8	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
9	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
10	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
11	ATF1	chr11:50771363-50771551	K562	blood:	n/a	n/a
12	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
13	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
14	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
15	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
16	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
17	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
18	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
19	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
20	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
21	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
22	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
23	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
24	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
25	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
26	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
27	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
28	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
29	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
30	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
31	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
32	BATF	chr11:50670092-50670325	GM12878	blood:	n/a	n/a
33	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
34	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
35	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
36	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
37	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
38	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
39	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
40	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
41	BATF	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
42	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
43	BATF	chr11:51199100-51199269	GM12878	blood:	n/a	n/a
44	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
45	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
46	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
47	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
48	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
49	BATF	chr11:50700733-50700935	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	chr11:50670378..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: 21274 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:21274 , 50 per page) page: 1 2 3 4 5 6 7 ... 426

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541628579	chr11:50660043-50660044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs61892512	chr11:50660044-50660045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs570865032	chr11:50660060-50660061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539717797	chr11:50660064-50660065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs542949473	chr11:50660065-50660066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs576286334	chr11:50660066-50660067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190882442	chr11:50660075-50660076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201142829	chr11:50660083-50660084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202096078	chr11:50660087-50660088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112091061	chr11:50660092-50660093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111469975	chr11:50660096-50660097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs572066918	chr11:50660098-50660099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542033674	chr11:50660129-50660130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191305736	chr11:50660157-50660158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs184117960	chr11:50660175-50660176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572145683	chr11:50660179-50660180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78459200	chr11:50660180-50660181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563691030	chr11:50660181-50660182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374358959	chr11:50660199-50660200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532786334	chr11:50660208-50660209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs546073919	chr11:50660227-50660228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528507351	chr11:50660232-50660233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562872932	chr11:50660234-50660235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531808948	chr11:50660242-50660243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548805644	chr11:50660243-50660244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs562155220	chr11:50660266-50660267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs146560938	chr11:50660276-50660277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs547935867	chr11:50660289-50660290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545459400	chr11:50660309-50660310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77856051	chr11:50660316-50660317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370069818	chr11:50660335-50660336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs80240044	chr11:50660336-50660337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550075778	chr11:50660341-50660342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112005083	chr11:50660349-50660350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs569977537	chr11:50660353-50660354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535280892	chr11:50660361-50660362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555497308	chr11:50660363-50660364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572150253	chr11:50660372-50660373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532929946	chr11:50660402-50660403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34005237	chr11:50660410-50660411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543805908	chr11:50660419-50660420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374569926	chr11:50660457-50660458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs183878729	chr11:50660477-50660478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563972379	chr11:50660479-50660480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201088815	chr11:50660486-50660487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs557445414	chr11:50660488-50660489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61892513	chr11:50660494-50660495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549617005	chr11:50660506-50660507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201963311	chr11:50660510-50660511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545115763	chr11:50660513-50660514	Weak transcription	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:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50660000-50663000	Weak transcription	Stomach Mucosa	stomach
2	chr11:50660800-50662000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr11:50661200-50661600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr11:50661200-50661600	Active TSS	Aorta	Aorta
5	chr11:50661200-50661600	ZNF genes & repeats	Liver	Liver
6	chr11:50661200-50661600	Active TSS	Right Atrium	heart
7	chr11:50661200-50661800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr11:50667400-50672200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr11:50668200-50670200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr11:50668600-50670600	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr11:50668600-50672000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:50669200-50669600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr11:50669400-50671400	ZNF genes & repeats	HepG2	liver
14	chr11:50669600-50669800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
15	chr11:50671000-50671400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr11:50671000-50671400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:50671000-50671400	ZNF genes & repeats	Fetal Heart	heart
18	chr11:50671000-50672200	ZNF genes & repeats	Liver	Liver
19	chr11:50671400-50676200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:50673400-50681800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr11:50673600-50679200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
22	chr11:50674000-50678800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr11:50675000-50676400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:50676000-50677000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:50676000-50679000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr11:50676200-50676600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr11:50676200-50676600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr11:50676200-50676600	ZNF genes & repeats	Brain Cingulate Gyrus	brain
29	chr11:50676200-50678800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:50676400-50676600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:50676400-50676800	ZNF genes & repeats	Primary T cells from cord blood	blood
32	chr11:50678200-50678400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr11:50678200-50678600	Active TSS	Aorta	Aorta
34	chr11:50681400-50681600	Bivalent/Poised TSS	Brain Angular Gyrus	brain
35	chr11:50681600-50681800	Active TSS	Brain Angular Gyrus	brain
36	chr11:50684800-50692800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
37	chr11:50685600-50697600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:50688400-50688800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:50688600-50688800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr11:50688600-50688800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:50688600-50688800	ZNF genes & repeats	Brain Anterior Caudate	brain
42	chr11:50688600-50688800	ZNF genes & repeats	Fetal Heart	heart
43	chr11:50688600-50688800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
44	chr11:50688600-50688800	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
45	chr11:50688800-50690400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:50688800-50690400	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr11:50690400-50690800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:50690400-50690800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
49	chr11:50690800-50691800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:50691800-50692000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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