Variant report

Variant	esv3369064
Chromosome Location	chr10:19417896-19419944
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	chr10:19419930..19422122-chr10:19424808..19427231,2	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 40 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533824595	chr10:19417898-19417899	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370558904	chr10:19417931-19417932	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139198391	chr10:19417951-19417952	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374782939	chr10:19417987-19417988	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548897063	chr10:19417998-19417999	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs564290069	chr10:19417999-19418000	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531440189	chr10:19418002-19418003	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530823423	chr10:19418024-19418025	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77688506	chr10:19418068-19418069	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs568186837	chr10:19418108-19418109	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371262066	chr10:19418124-19418125	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550161345	chr10:19418145-19418146	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562092130	chr10:19418233-19418234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368426185	chr10:19418244-19418245	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377009511	chr10:19418264-19418265	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7920571	chr10:19418275-19418276	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs181587951	chr10:19418285-19418286	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565417635	chr10:19418310-19418311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185850343	chr10:19418326-19418327	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs149547295	chr10:19418330-19418331	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs77283973	chr10:19418381-19418382	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550655558	chr10:19418420-19418421	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537094757	chr10:19418448-19418449	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555362005	chr10:19418450-19418451	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs190275862	chr10:19418490-19418491	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs570973129	chr10:19418517-19418518	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181078907	chr10:19418533-19418534	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12252510	chr10:19418567-19418568	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
29	rs186031880	chr10:19418568-19418569	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs374825300	chr10:19418578-19418579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114087924	chr10:19418598-19418599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs564607590	chr10:19418603-19418604	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148718422	chr10:19418610-19418611	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs543840817	chr10:19418627-19418628	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs562030992	chr10:19418674-19418675	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs111998645	chr10:19418685-19418686	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs529573195	chr10:19418702-19418703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372847250	chr10:19418729-19418730	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs116203292	chr10:19418769-19418770	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190979754	chr10:19418823-19418824	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533572449	chr10:19418860-19418861	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34413523	chr10:19418866-19418867	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371269146	chr10:19418867-19418868	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs397787382	chr10:19418880-19418881	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184022478	chr10:19418881-19418882	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569771464	chr10:19418911-19418912	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577620455	chr10:19418939-19418940	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147899012	chr10:19418963-19418964	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs530409259	chr10:19418968-19418969	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549025689	chr10:19418973-19418974	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:40)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:19413600-19424000	Weak transcription	Fetal Intestine Small	intestine
2	chr10:19414800-19434800	Weak transcription	Small Intestine	intestine
3	chr10:19415800-19419400	Strong transcription	Duodenum Mucosa	Duodenum
4	chr10:19417200-19419400	Strong transcription	Fetal Intestine Large	intestine
5	chr10:19419400-19422800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:19419400-19425600	Weak transcription	Fetal Intestine Large	intestine

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