Variant report

Variant	nsv551044
Chromosome Location	chr10:57351781-57360802
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:57359114-57359287	HepG2	liver:	n/a	n/a
2	BRCA1	chr10:57358162-57358227	Hela-S3	cervix:	n/a	n/a
3	CTCF	chr10:57357723-57357806	GM20000	blood:	n/a	n/a
4	CTCF	chr10:57359985-57360046	GM10266	blood:	n/a	n/a
5	CTCF	chr10:57356976-57357029	Lung_OC	lung:	n/a	n/a
6	JUND	chr10:57359144-57359249	HepG2	liver:	n/a	n/a
7	MAFK	chr10:57352874-57353142	HepG2	liver:	n/a	n/a
8	POLR2A	chr10:57356960-57357054	Gliobla	brain:	n/a	n/a
9	POLR2A	chr10:57356940-57356957	Gliobla	brain:	n/a	n/a
10	RXRA	chr10:57359092-57359309	GM12878	blood:	n/a	n/a
11	STAT3	chr10:57355852-57356176	MCF10A-Er-Src	breast:	n/a	n/a
12	STAT3	chr10:57351590-57351783	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr10:57356932-57356959	MCF10A-Er-Src	breast:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZWINT-4	chr10:57356873-57356993	ENSG00000236744.2
2	lnc-ZWINT-4	chr10:57356873-57356993	ENSG00000236744.1

Variant related genes	Relation type
ENSG00000236744	TF binding region
MTRNR2L5	TF binding region

Extended variants
information (count: 51 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375734201	chr10:57352000-57352001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548822199	chr10:57352021-57352022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs557773879	chr10:57352034-57352035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4130563	chr10:57352038-57352039	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs536068925	chr10:57352053-57352054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557975042	chr10:57352140-57352141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552618245	chr10:57352161-57352162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs572615715	chr10:57352186-57352187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371430809	chr10:57352234-57352235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34051209	chr10:57352244-57352245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs538202258	chr10:57352309-57352310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs141853630	chr10:57352334-57352335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs575236599	chr10:57352339-57352340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs543744173	chr10:57352350-57352351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547985581	chr10:57352354-57352355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564038770	chr10:57352399-57352400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs542060663	chr10:57355917-57355918	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs561725199	chr10:57355920-57355921	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs527380095	chr10:57355979-57355980	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs543271566	chr10:57355980-57355981	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs541169712	chr10:57356017-57356018	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs192476950	chr10:57356053-57356054	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs10825555	chr10:57356063-57356064	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs183359150	chr10:57356070-57356071	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs569468601	chr10:57356117-57356118	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs531753099	chr10:57356161-57356162	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs186807259	chr10:57356163-57356164	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs568359430	chr10:57356170-57356171	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs539779252	chr10:57356902-57356903	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs10763219	chr10:57356945-57356946	Inactive region	TF binding region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs570106356	chr10:57356948-57356949	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs535733732	chr10:57356975-57356976	Inactive region	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs192627953	chr10:57357027-57357028	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
34	rs185415666	chr10:57357029-57357030	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs116558156	chr10:57357049-57357050	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs550286053	chr10:57357734-57357735	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
37	rs61284350	chr10:57357740-57357741	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs187160851	chr10:57358166-57358167	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs138880103	chr10:57358215-57358216	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs71492659	chr10:57359102-57359103	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs529405465	chr10:57359110-57359111	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs186322691	chr10:57359151-57359152	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs138098376	chr10:57359154-57359155	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs528512127	chr10:57359169-57359170	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs547029826	chr10:57359176-57359177	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs374670067	chr10:57359185-57359186	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs570409521	chr10:57359200-57359201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs143652762	chr10:57359231-57359232	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs571531436	chr10:57359232-57359233	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs79101383	chr10:57359300-57359301	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Obesity	21956041	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Cancer	20164919	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:57352000-57352400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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