Variant report

Variant	nsv1044241
Chromosome Location	chr11:50417549-51319588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2670)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2670 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

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	chr11:50767721-50767932	K562	blood:	n/a	n/a
5	ATF1	chr11:50741510-50741536	K562	blood:	n/a	n/a
6	ATF1	chr11:50755176-50755720	K562	blood:	n/a	n/a
7	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
8	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
9	ATF1	chr11:50721580-50721799	K562	blood:	n/a	n/a
10	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
11	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
12	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
13	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
14	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
15	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
16	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
17	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
18	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
19	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
20	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
21	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
23	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
24	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
25	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
26	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
27	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
28	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
29	BATF	chr11:50670735-50670974	GM12878	blood:	n/a	n/a
30	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
31	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
32	BATF	chr11:50779460-50779823	GM12878	blood:	n/a	n/a
33	BATF	chr11:50772283-50772434	GM12878	blood:	n/a	n/a
34	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
35	BATF	chr11:50767583-50768188	GM12878	blood:	n/a	n/a
36	BATF	chr11:50755495-50755763	GM12878	blood:	n/a	n/a
37	BATF	chr11:51199068-51199248	GM12878	blood:	n/a	n/a
38	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
39	BATF	chr11:50756315-50756627	GM12878	blood:	n/a	n/a
40	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
41	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
42	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
43	BATF	chr11:50649412-50649706	GM12878	blood:	n/a	n/a
44	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
45	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
46	BATF	chr11:50782290-50782554	GM12878	blood:	n/a	n/a
47	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
48	BATF	chr11:50681509-50681669	GM12878	blood:	n/a	n/a
49	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
50	BATF	chr11:50768336-50768651	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: 34237 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:34237 , 50 per page) page: 1 2 3 4 5 6 7 ... 685

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs490842	chr11:50417549-50417550	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs141485789	chr11:50417570-50417571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs76017647	chr11:50417586-50417587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs76727754	chr11:50417597-50417598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs375855429	chr11:50417602-50417603	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369420144	chr11:50417611-50417612	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191920305	chr11:50417621-50417622	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs550749066	chr11:50417625-50417626	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs373285310	chr11:50417652-50417653	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549669553	chr11:50417668-50417669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs549152372	chr11:50417707-50417708	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs567562381	chr11:50417767-50417768	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs78091451	chr11:50417769-50417770	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs536545663	chr11:50417775-50417776	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs147007548	chr11:50417793-50417794	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs184105960	chr11:50417798-50417799	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs192510411	chr11:50418816-50418817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564993468	chr11:50418817-50418818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs183832946	chr11:50418821-50418822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs185454298	chr11:50418846-50418847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs34243357	chr11:50418863-50418864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377055093	chr11:50418875-50418876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs7111579	chr11:50418952-50418953	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs189761298	chr11:50418982-50418983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs182167016	chr11:50418986-50418987	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544088165	chr11:50418987-50418988	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560817376	chr11:50418994-50418995	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs6597920	chr11:50419045-50419046	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs563289335	chr11:50419046-50419047	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs187202923	chr11:50419047-50419048	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs74823232	chr11:50419066-50419067	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs377653517	chr11:50419067-50419068	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551999800	chr11:50419088-50419089	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs565316690	chr11:50419091-50419092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs148750590	chr11:50419105-50419106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs551310281	chr11:50419109-50419110	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs376876460	chr11:50419116-50419117	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs567930668	chr11:50419125-50419126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs142338741	chr11:50419131-50419132	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs546634479	chr11:50419133-50419134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs566992763	chr11:50419134-50419135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs192535868	chr11:50419174-50419175	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs114944324	chr11:50419217-50419218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs370520513	chr11:50419295-50419296	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375358919	chr11:50419304-50419305	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs554449548	chr11:50419310-50419311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574353505	chr11:50419319-50419320	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540263105	chr11:50419325-50419326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113880505	chr11:50419351-50419352	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs61894068	chr11:50419370-50419371	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:60)

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
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:670 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50410200-50417800	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr11:50418800-50424200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
3	chr11:50419600-50423400	ZNF genes & repeats	Adipose Nuclei	Adipose
4	chr11:50419600-50431000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr11:50420000-50423600	ZNF genes & repeats	Liver	Liver
6	chr11:50420200-50421200	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr11:50423000-50426000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
8	chr11:50423600-50425400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:50426000-50427000	ZNF genes & repeats	Adipose Nuclei	Adipose
10	chr11:50428000-50428800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr11:50435400-50442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr11:50436000-50438200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
13	chr11:50437400-50438000	ZNF genes & repeats	HepG2	liver
14	chr11:50437600-50438000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr11:50437600-50438000	ZNF genes & repeats	Adipose Nuclei	Adipose
16	chr11:50437600-50438000	ZNF genes & repeats	HUVEC	blood vessel
17	chr11:50437600-50438200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:50437600-50444000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
19	chr11:50437800-50438000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr11:50437800-50438000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr11:50437800-50438000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:50437800-50438000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
27	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
28	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
30	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
31	chr11:50437800-50438000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
32	chr11:50437800-50438000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:50437800-50438000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
35	chr11:50437800-50438000	ZNF genes & repeats	Brain Anterior Caudate	brain
36	chr11:50437800-50438000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
37	chr11:50437800-50438000	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr11:50437800-50438000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
39	chr11:50437800-50438000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
40	chr11:50437800-50438000	ZNF genes & repeats	Left Ventricle	heart
41	chr11:50437800-50438000	ZNF genes & repeats	Small Intestine	intestine
42	chr11:50437800-50438000	ZNF genes & repeats	Stomach Mucosa	stomach
43	chr11:50437800-50438000	ZNF genes & repeats	HSMMtube	muscle
44	chr11:50437800-50438200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
45	chr11:50437800-50438200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
46	chr11:50437800-50438400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
47	chr11:50442400-50447800	ZNF genes & repeats	Liver	Liver
48	chr11:50443000-50447600	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr11:50443600-50443800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
50	chr11:50443600-50447800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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