Variant report

Variant	nsv960560
Chromosome Location	chr17:60354528-60369016
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	CTCF	chr17:60361730-60361782	GM13976	blood:	n/a	n/a
2	CTCF	chr17:60360805-60360846	GM13976	blood:	n/a	n/a
3	CTCF	chr17:60354696-60354799	Medullo	brain:	n/a	n/a
4	JUND	chr17:60354424-60354604	HepG2	liver:	n/a	chr17:60354483-60354494
5	MAFF	chr17:60363031-60363190	HepG2	liver:	n/a	n/a
6	MAFK	chr17:60363148-60363204	IMR90	lung:	n/a	chr17:60363158-60363174 chr17:60363158-60363169 chr17:60363159-60363170 chr17:60363157-60363171 chr17:60363158-60363169
7	MAFK	chr17:60363015-60363203	HepG2	liver:	n/a	chr17:60363158-60363174 chr17:60363158-60363169 chr17:60363159-60363170 chr17:60363157-60363171 chr17:60363158-60363169
8	POLR2A	chr17:60359596-60359678	A549	lung:	n/a	n/a
9	POLR2A	chr17:60360622-60360731	ProgFib	skin:	n/a	n/a
10	POLR2A	chr17:60367179-60367280	ProgFib	skin:	n/a	n/a
11	POLR2A	chr17:60359593-60359725	Gliobla	brain:	n/a	n/a
12	POLR2A	chr17:60360181-60360287	ProgFib	skin:	n/a	n/a
13	POLR2A	chr17:60360345-60360410	ProgFib	skin:	n/a	n/a
14	POLR2A	chr17:60359448-60359553	A549	lung:	n/a	n/a
15	POLR2A	chr17:60361586-60361629	ProgFib	skin:	n/a	n/a
16	POU2F2	chr17:60354395-60354909	GM12878	blood:	n/a	n/a
17	SPI1	chr17:60354617-60354838	K562	blood:	n/a	n/a
18	SPI1	chr17:60354646-60354894	K562	blood:	n/a	n/a

Variant related genes	Relation type
TBC1D3P2	TF binding region
ENSG00000270033	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566907340	chr17:60354658-60354659	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs533260477	chr17:60354720-60354721	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs552385363	chr17:60354753-60354754	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs149497593	chr17:60354847-60354848	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs7219629	chr17:60354862-60354863	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs36002932	chr17:60354870-60354871	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs113171822	chr17:60354877-60354878	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs181571923	chr17:60354886-60354887	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs553483993	chr17:60354895-60354896	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562560404	chr17:60360276-60360277	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs144345074	chr17:60360346-60360347	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs3968037	chr17:60360410-60360411	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs537886093	chr17:60360662-60360663	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs574616103	chr17:60360805-60360806	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs150913339	chr17:60361602-60361603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs567938954	chr17:60361621-60361622	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs576363911	chr17:60361770-60361771	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs569918264	chr17:60363103-60363104	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs535696275	chr17:60363112-60363113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs536978197	chr17:60363113-60363114	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs550122587	chr17:60363144-60363145	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs555917510	chr17:60363145-60363146	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs566275941	chr17:60363174-60363175	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:106)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Neuroblastoma	18923191	CNVD
Bladder cancer	21909424	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
Chordoma	18071362	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	21523713	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	16608533	CNVD
Breast cancer	21858162	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
XY sex reversal	17503084	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17899364	CNVD
Multiple myeloma	16616336	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	16620391	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21611746	CNVD
Williams-Beuren syndrome	16971481	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21958427	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
Cancer	21129771	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	23813976	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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