Variant report

Variant	esv3530577
Chromosome Location	chr14:36671956-36675542
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:36674915..36676965-chr14:36682336..36684243,2	K562	blood:
2	chr14:36672609..36674507-chr14:36674625..36676988,2	MCF-7	breast:
3	chr14:36672609..36674507-chr14:36674625..36676988,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258844	chromatin interactions

Extended variants
information (count: 25 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146970351	chr14:36674946-36674947	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149770623	chr14:36674966-36674967	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs144860746	chr14:36675015-36675016	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs10139973	chr14:36675034-36675035	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs535853712	chr14:36675057-36675058	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558026358	chr14:36675068-36675069	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs555711490	chr14:36675093-36675094	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148581538	chr14:36675111-36675112	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs538759119	chr14:36675119-36675120	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs144430514	chr14:36675148-36675149	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs572644037	chr14:36675163-36675164	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541217818	chr14:36675168-36675169	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs187015603	chr14:36675203-36675204	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs575149628	chr14:36675242-36675243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs543863218	chr14:36675245-36675246	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4638466	chr14:36675247-36675248	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577155877	chr14:36675252-36675253	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs546320431	chr14:36675310-36675311	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs559591293	chr14:36675367-36675368	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs191401141	chr14:36675391-36675392	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs4553500	chr14:36675397-36675398	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs183370052	chr14:36675422-36675423	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs185578733	chr14:36675423-36675424	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs549648888	chr14:36675437-36675438	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs544583247	chr14:36675498-36675499	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	20955586	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Cancer	21129771	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	21569311	CNVD
Lung cancer	21911935	CNVD
Myelofibrosis	22110671	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Non-syndromic sensorineural hearing loss	22037309	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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