Variant report

Variant	nsv984143
Chromosome Location	chr15:82720488-82724618
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	EBF1	chr15:82722005-82722394	GM12878	blood:	n/a	n/a
2	EBF1	chr15:82722721-82722972	GM12878	blood:	n/a	chr15:82722912-82722921 chr15:82722911-82722921
3	EBF1	chr15:82722727-82723025	GM12878	blood:	n/a	chr15:82722912-82722921 chr15:82722911-82722921
4	EBF1	chr15:82722085-82722301	GM12878	blood:	n/a	n/a
5	EP300	chr15:82723487-82723735	GM12878	blood:	n/a	n/a
6	FOSL2	chr15:82722036-82722324	HepG2	liver:	n/a	n/a
7	FOSL2	chr15:82722583-82723060	HepG2	liver:	n/a	chr15:82722935-82722944
8	FOSL2	chr15:82723498-82723865	HepG2	liver:	n/a	n/a
9	FOXA1	chr15:82723519-82723935	HepG2	liver:	n/a	n/a
10	GABPA	chr15:82722730-82722891	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr15:82722138-82722255	Hela-S3	cervix:	n/a	n/a
12	GABPA	chr15:82722571-82722971	Hela-S3	cervix:	n/a	n/a
13	GATA2	chr15:82723702-82723987	K562	blood:	n/a	n/a
14	HEY1	chr15:82722119-82722346	HepG2	liver:	n/a	n/a
15	JUND	chr15:82722662-82722787	HepG2	liver:	n/a	n/a
16	JUND	chr15:82722121-82722253	HepG2	liver:	n/a	n/a
17	JUND	chr15:82722712-82723029	HepG2	liver:	n/a	chr15:82722935-82722944
18	PAX5	chr15:82722036-82722279	GM12878	blood:	n/a	chr15:82722110-82722129
19	PAX5	chr15:82723608-82723821	GM12878	blood:	n/a	n/a
20	PAX5	chr15:82722427-82723069	GM12878	blood:	n/a	n/a
21	PAX5	chr15:82722025-82722358	GM12878	blood:	n/a	chr15:82722110-82722129
22	PBX3	chr15:82722476-82722598	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:82721922-82723512	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr15:82722090-82722361	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr15:82721986-82722678	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr15:82722049-82722422	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr15:82721989-82722345	GM12878	blood:	n/a	n/a
28	POLR2A	chr15:82723639-82723807	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr15:82722143-82722174	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr15:82721971-82722365	H1-hESC	embryonic stem cell:	n/a	n/a
31	POU2F2	chr15:82722011-82722458	GM12878	blood:	n/a	n/a
32	POU2F2	chr15:82722464-82723262	GM12878	blood:	n/a	n/a
33	SIN3AK20	chr15:82722778-82722918	HepG2	liver:	n/a	n/a
34	SIN3AK20	chr15:82722121-82722257	HepG2	liver:	n/a	n/a
35	SIX5	chr15:82722052-82722330	K562	blood:	n/a	n/a
36	SP1	chr15:82721924-82722296	GM12878	blood:	n/a	chr15:82721994-82722003 chr15:82722038-82722050 chr15:82722169-82722179 chr15:82721993-82722005 chr15:82722112-82722122 chr15:82721995-82722004 chr15:82721994-82722008 chr15:82722039-82722048 chr15:82722143-82722164 chr15:82722169-82722179 chr15:82721993-82722005
37	SP1	chr15:82722680-82722962	HepG2	liver:	n/a	chr15:82722859-82722873 chr15:82722908-82722917
38	SP1	chr15:82721942-82722346	GM12878	blood:	n/a	chr15:82721994-82722003 chr15:82722038-82722050 chr15:82722169-82722179 chr15:82721993-82722005 chr15:82722112-82722122 chr15:82721995-82722004 chr15:82721994-82722008 chr15:82722039-82722048 chr15:82722143-82722164 chr15:82722169-82722179 chr15:82721993-82722005
39	SP1	chr15:82722039-82722350	HepG2	liver:	n/a	chr15:82722169-82722179 chr15:82722112-82722122 chr15:82722039-82722048 chr15:82722143-82722164 chr15:82722169-82722179
40	SPI1	chr15:82722720-82722927	GM12878	blood:	n/a	n/a
41	SPI1	chr15:82722984-82723225	GM12878	blood:	n/a	n/a
42	SPI1	chr15:82724559-82724817	GM12878	blood:	n/a	n/a
43	SPI1	chr15:82722107-82722289	K562	blood:	n/a	n/a
44	SPI1	chr15:82723093-82723253	K562	blood:	n/a	n/a
45	TAF1	chr15:82722053-82722419	H1-hESC	embryonic stem cell:	n/a	n/a
46	TAF1	chr15:82722115-82722306	GM12892	blood:	n/a	n/a
47	TAF1	chr15:82722109-82722356	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr15:82721943-82722484	H1-hESC	embryonic stem cell:	n/a	n/a
49	TCF12	chr15:82722048-82722323	GM12878	blood:	n/a	n/a
50	TCF3	chr15:82722493-82723041	GM12878	blood:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GOLGA6L9-2	chr15:82724031-82724418	NONHSAT047782
2	lnc-GOLGA6L9-2	chr15:82722223-82722368	NONHSAT047782

Variant related genes	Relation type
GOLGA6L9	TF binding region

Extended variants
information (count: 1 )
Associated
traits (count: 70 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs382083	chr15:82722023-82722024	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16774939	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Congenital diaphragmatic hernia	20921022	CNVD
abnormal development	18461090	CNVD
Intellectual disability	22102821	CNVD
renal disease	17924346	CNVD
Breast cancer	20409316	CNVD
Mental retardation	17847001	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21509527	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Williams Syndrome	20824207	CNVD

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

No data

Quick Search:

Input of quick search could be:

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

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links