Variant report

Variant	nsv948277
Chromosome Location	chr10:39055725-39057358
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	BATF	chr10:39056264-39056575	GM12878	blood:	n/a	chr10:39056419-39056430
2	IRF4	chr10:39056199-39056597	GM12878	blood:	n/a	n/a
3	SP1	chr10:39056256-39056509	GM12878	blood:	n/a	n/a
4	ZBTB33	chr10:39056123-39056476	GM12878	blood:	n/a	n/a
5	ZBTB33	chr10:39056236-39056483	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000227679	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573624201	chr10:39056127-39056128	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs542208178	chr10:39056132-39056133	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs562551639	chr10:39056134-39056135	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs531212355	chr10:39056145-39056146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs4070013	chr10:39056158-39056159	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs140658065	chr10:39056200-39056201	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs551415530	chr10:39056202-39056203	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs564844081	chr10:39056205-39056206	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs138148581	chr10:39056212-39056213	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs189058848	chr10:39056227-39056228	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs4070012	chr10:39056229-39056230	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs547242614	chr10:39056240-39056241	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs567152974	chr10:39056247-39056248	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs200866990	chr10:39056255-39056256	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs2983913	chr10:39056267-39056268	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs569182584	chr10:39056278-39056279	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs537858902	chr10:39056318-39056319	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs558206671	chr10:39056329-39056330	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201097389	chr10:39056355-39056356	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs571680617	chr10:39056356-39056357	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533725510	chr10:39056371-39056372	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs553593196	chr10:39056380-39056381	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs573595602	chr10:39056415-39056416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs368449879	chr10:39056416-39056417	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs4102338	chr10:39056458-39056459	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs542467334	chr10:39056479-39056480	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs149606786	chr10:39056487-39056488	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs4102337	chr10:39056495-39056496	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs376044742	chr10:39056513-39056514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201004885	chr10:39056517-39056518	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs202196206	chr10:39056529-39056530	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs11146687	chr10:39056551-39056552	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs7902551	chr10:39056568-39056569	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs7915376	chr10:39056579-39056580	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs199546308	chr10:39056587-39056588	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	22286061	CNVD
Colorectal cancer	20459617	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Central neurocytomas	17123091	CNVD
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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