Variant report

Variant	nsv948276
Chromosome Location	chr10:39055012-39055725
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	BCL11A	chr10:39055155-39055331	GM12878	blood:	n/a	n/a
2	EP300	chr10:39055105-39055340	GM12878	blood:	n/a	chr10:39055206-39055215
3	FOSL2	chr10:39054980-39055386	HepG2	liver:	n/a	chr10:39055208-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055206-39055216
4	FOSL2	chr10:39054913-39055362	HepG2	liver:	n/a	chr10:39055208-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055206-39055216
5	JUND	chr10:39055057-39055479	HepG2	liver:	n/a	chr10:39055208-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055206-39055216
6	JUND	chr10:39055140-39055269	HepG2	liver:	n/a	chr10:39055208-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055207-39055215 chr10:39055206-39055216 chr10:39055206-39055216
7	PAX5	chr10:39055084-39055331	GM12878	blood:	n/a	n/a
8	POU2F2	chr10:39055009-39055642	GM12878	blood:	n/a	n/a
9	RXRA	chr10:39055106-39055289	HepG2	liver:	n/a	n/a
10	USF1	chr10:39055131-39055315	HepG2	liver:	n/a	n/a
11	USF1	chr10:39055157-39055322	HepG2	liver:	n/a	n/a
12	ZBTB33	chr10:39054960-39055308	GM12878	blood:	n/a	chr10:39055075-39055084
13	ZBTB33	chr10:39055107-39055357	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SEPT7L-6	chr10:39055226-39055622	NONHSAT012842

Variant related genes	Relation type
ENSG00000227679	TF binding region

Extended variants
information (count: 34 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187485789	chr10:39055228-39055229	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs561904305	chr10:39055239-39055240	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs564276154	chr10:39055240-39055241	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs376793035	chr10:39055246-39055247	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs3931168	chr10:39055263-39055264	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs570746286	chr10:39055267-39055268	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs532759683	chr10:39055288-39055289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs4070022	chr10:39055308-39055309	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs566050745	chr10:39055326-39055327	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs368596273	chr10:39055330-39055331	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566210471	chr10:39055346-39055347	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs4294503	chr10:39055352-39055353	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs192765190	chr10:39055381-39055382	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs554736035	chr10:39055394-39055395	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs3970295	chr10:39055399-39055400	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4070021	chr10:39055435-39055436	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142927100	chr10:39055456-39055457	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs201595720	chr10:39055484-39055485	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs373436413	chr10:39055499-39055500	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs577499063	chr10:39055513-39055514	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs545855614	chr10:39055532-39055533	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374824478	chr10:39055533-39055534	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs573365719	chr10:39055536-39055537	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs368899262	chr10:39055543-39055544	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs188723141	chr10:39055574-39055575	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs562167048	chr10:39055582-39055583	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs111603032	chr10:39055601-39055602	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs530592259	chr10:39055605-39055606	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs544411922	chr10:39055613-39055614	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs564211719	chr10:39055618-39055619	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs533287703	chr10:39055619-39055620	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs546187104	chr10:39055621-39055622	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs371842299	chr10:39055624-39055625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs566173763	chr10:39055637-39055638	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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