Variant report

Variant	nsv1040310
Chromosome Location	chr11:50430956-51319588
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2656)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2656 , 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	chr11:50721580-50721799	K562	blood:	n/a	n/a
4	ATF1	chr11:50771363-50771551	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	chr11:50767721-50767932	K562	blood:	n/a	n/a
8	ATF1	chr11:50676160-50676529	K562	blood:	n/a	n/a
9	ATF1	chr11:51250147-51250516	K562	blood:	n/a	n/a
10	ATF1	chr11:50728352-50728528	K562	blood:	n/a	n/a
11	ATF1	chr11:50757990-50758182	K562	blood:	n/a	n/a
12	BACH1	chr11:50765324-50765524	K562	blood:	n/a	n/a
13	BACH1	chr11:50769674-50770049	K562	blood:	n/a	n/a
14	BACH1	chr11:50767401-50767428	K562	blood:	n/a	n/a
15	BACH1	chr11:50780465-50780837	K562	blood:	n/a	n/a
16	BACH1	chr11:51292058-51292433	K562	blood:	n/a	n/a
17	BACH1	chr11:50699638-50700011	K562	blood:	n/a	n/a
18	BACH1	chr11:51219237-51219611	K562	blood:	n/a	n/a
19	BACH1	chr11:50741715-50742187	K562	blood:	n/a	n/a
20	BACH1	chr11:50762679-50763056	K562	blood:	n/a	n/a
21	BACH1	chr11:51234203-51234576	H1-hESC	embryonic stem cell:	n/a	n/a
22	BACH1	chr11:50759699-50760188	K562	blood:	n/a	n/a
23	BACH1	chr11:50744265-50744293	K562	blood:	n/a	n/a
24	BACH1	chr11:50739007-50739300	K562	blood:	n/a	n/a
25	BATF	chr11:50764082-50764319	GM12878	blood:	n/a	n/a
26	BATF	chr11:50687048-50687278	GM12878	blood:	n/a	n/a
27	BATF	chr11:50721484-50721792	GM12878	blood:	n/a	n/a
28	BATF	chr11:50671779-50671988	GM12878	blood:	n/a	n/a
29	BATF	chr11:50761809-50762209	GM12878	blood:	n/a	n/a
30	BATF	chr11:50668601-50668765	GM12878	blood:	n/a	n/a
31	BATF	chr11:50700733-50700935	GM12878	blood:	n/a	n/a
32	BATF	chr11:50686999-50687394	GM12878	blood:	n/a	n/a
33	BATF	chr11:50756360-50756521	GM12878	blood:	n/a	n/a
34	BATF	chr11:50772285-50772433	GM12878	blood:	n/a	n/a
35	BATF	chr11:50742992-50743342	GM12878	blood:	n/a	n/a
36	BATF	chr11:50749839-50750367	GM12878	blood:	n/a	n/a
37	BATF	chr11:50688591-50688754	GM12878	blood:	n/a	n/a
38	BATF	chr11:50779460-50779823	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	chr11:50711202-50711412	GM12878	blood:	n/a	n/a
42	BATF	chr11:50764084-50764312	GM12878	blood:	n/a	n/a
43	BATF	chr11:50676209-50676542	GM12878	blood:	n/a	n/a
44	BATF	chr11:51250243-51250386	GM12878	blood:	n/a	n/a
45	BATF	chr11:50768336-50768651	GM12878	blood:	n/a	n/a
46	BATF	chr11:50779519-50779853	GM12878	blood:	n/a	n/a
47	BATF	chr11:50711195-50711416	GM12878	blood:	n/a	n/a
48	BATF	chr11:50722179-50722655	GM12878	blood:	n/a	n/a
49	BATF	chr11:50723560-50724069	GM12878	blood:	n/a	n/a
50	BATF	chr11:50649412-50649706	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: 33389 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:33389 , 50 per page) page: 1 2 3 4 5 6 7 ... 668

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1602115	chr11:50430956-50430957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs369997454	chr11:50430980-50430981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs1602114	chr11:50430985-50430986	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs568453542	chr11:50435400-50435401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs538763457	chr11:50435412-50435413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs558642396	chr11:50435437-50435438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs574417639	chr11:50435453-50435454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs1489669	chr11:50435466-50435467	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs537635184	chr11:50435497-50435498	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs187071136	chr11:50435503-50435504	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs574233763	chr11:50435520-50435521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536914584	chr11:50435529-50435530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553111603	chr11:50435550-50435551	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs572854847	chr11:50435553-50435554	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs371517684	chr11:50435557-50435558	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192233888	chr11:50435616-50435617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575141318	chr11:50435627-50435628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs139814655	chr11:50435640-50435641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs146463883	chr11:50435665-50435666	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561272026	chr11:50435693-50435694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs145291538	chr11:50435699-50435700	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs184379571	chr11:50435713-50435714	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs532652230	chr11:50435726-50435727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs147869004	chr11:50435732-50435733	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs546055360	chr11:50435733-50435734	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs72484110	chr11:50435762-50435763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532108234	chr11:50435832-50435833	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs523502	chr11:50435838-50435839	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs531765581	chr11:50435882-50435883	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs190650706	chr11:50435883-50435884	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs550907991	chr11:50435889-50435890	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs567816173	chr11:50435901-50435902	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs76352198	chr11:50435903-50435904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs553588991	chr11:50435918-50435919	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs113530712	chr11:50435919-50435920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs370540052	chr11:50435950-50435951	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200165100	chr11:50435968-50435969	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs572942684	chr11:50435978-50435979	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs34178092	chr11:50435984-50435985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs117709449	chr11:50435992-50435993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs34094583	chr11:50436005-50436006	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs558655308	chr11:50436009-50436010	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs12295984	chr11:50436015-50436016	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs544658687	chr11:50436021-50436022	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs560948196	chr11:50436023-50436024	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs573799328	chr11:50436045-50436046	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs574530624	chr11:50436054-50436055	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs540169466	chr11:50436100-50436101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs151193778	chr11:50436155-50436156	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs116835707	chr11:50436178-50436179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	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
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	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:661 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:50419600-50431000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:50435400-50442800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:50436000-50438200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr11:50437400-50438000	ZNF genes & repeats	HepG2	liver
5	chr11:50437600-50438000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
6	chr11:50437600-50438000	ZNF genes & repeats	Adipose Nuclei	Adipose
7	chr11:50437600-50438000	ZNF genes & repeats	HUVEC	blood vessel
8	chr11:50437600-50438200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:50437600-50444000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr11:50437800-50438000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr11:50437800-50438000	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
12	chr11:50437800-50438000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:50437800-50438000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:50437800-50438000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
17	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
19	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
20	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr11:50437800-50438000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr11:50437800-50438000	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
23	chr11:50437800-50438000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:50437800-50438000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr11:50437800-50438000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
26	chr11:50437800-50438000	ZNF genes & repeats	Brain Anterior Caudate	brain
27	chr11:50437800-50438000	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
28	chr11:50437800-50438000	ZNF genes & repeats	Brain Substantia Nigra	brain
29	chr11:50437800-50438000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
30	chr11:50437800-50438000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
31	chr11:50437800-50438000	ZNF genes & repeats	Left Ventricle	heart
32	chr11:50437800-50438000	ZNF genes & repeats	Small Intestine	intestine
33	chr11:50437800-50438000	ZNF genes & repeats	Stomach Mucosa	stomach
34	chr11:50437800-50438000	ZNF genes & repeats	HSMMtube	muscle
35	chr11:50437800-50438200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr11:50437800-50438200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
37	chr11:50437800-50438400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
38	chr11:50442400-50447800	ZNF genes & repeats	Liver	Liver
39	chr11:50443000-50447600	ZNF genes & repeats	Adipose Nuclei	Adipose
40	chr11:50443600-50443800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
41	chr11:50443600-50447800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:50445200-50447800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr11:50445600-50446000	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr11:50451000-50456800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr11:50459800-50460800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:50464200-50466200	ZNF genes & repeats	Adipose Nuclei	Adipose
47	chr11:50464600-50465000	ZNF genes & repeats	Liver	Liver
48	chr11:50472800-50489800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:50473800-50477200	ZNF genes & repeats	Liver	Liver
50	chr11:50474400-50484600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum

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