Variant report

Variant	esv1811985
Chromosome Location	chr10:19180855-19185052
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:19174898..19176889-chr10:19178609..19181209,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 39 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567935985	chr10:19181003-19181004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs187851977	chr10:19181033-19181034	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79991538	chr10:19181036-19181037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191368354	chr10:19181043-19181044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144445698	chr10:19181044-19181045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556602314	chr10:19181072-19181073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs4607963	chr10:19181104-19181105	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557572343	chr10:19181131-19181132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs144581032	chr10:19181141-19181142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4465267	chr10:19181172-19181173	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183468398	chr10:19181180-19181181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs148486764	chr10:19181223-19181224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561224739	chr10:19181228-19181229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11598310	chr10:19181241-19181242	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs142747301	chr10:19181263-19181264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189359161	chr10:19181290-19181291	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181846969	chr10:19181298-19181299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563752216	chr10:19181370-19181371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185348513	chr10:19181385-19181386	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs151038827	chr10:19181432-19181433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567909375	chr10:19181438-19181439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141257921	chr10:19181451-19181452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572914430	chr10:19181458-19181459	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7071565	chr10:19181467-19181468	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs61851162	chr10:19181508-19181509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190151911	chr10:19181538-19181539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs9787596	chr10:19181539-19181540	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12356535	chr10:19181542-19181543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs556664143	chr10:19181560-19181561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574979531	chr10:19181601-19181602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537057121	chr10:19181609-19181610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370252668	chr10:19181630-19181631	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs143691098	chr10:19181642-19181643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146825308	chr10:19181668-19181669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs572910741	chr10:19181687-19181688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs112186812	chr10:19181708-19181709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs181406169	chr10:19181723-19181724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186615628	chr10:19181725-19181726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs545406601	chr10:19181749-19181750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs373773639	chr10:19181764-19181765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs140656731	chr10:19181779-19181780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs569568268	chr10:19181780-19181781	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:39)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Breast cancer	17133270	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intracranial aneurysm	16715129	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Multiple myeloma	16616336	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	22083797	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19181000-19181800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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