Variant report

Variant	esv3360360
Chromosome Location	chr5:29783420-29785443
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	chr5:29784571..29787438-chr5:29789979..29792969,3	K562	blood:
2	chr5:29779299..29782014-chr5:29783552..29785289,2	K562	blood:

Extended variants
information (count: 150 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:150 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538807490	chr5:29783453-29783454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181804986	chr5:29783454-29783455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs375348303	chr5:29783489-29783490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs145587903	chr5:29783532-29783533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147715995	chr5:29783541-29783542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113872606	chr5:29783597-29783598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs62348705	chr5:29783616-29783617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs570061614	chr5:29783649-29783650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs537354550	chr5:29783664-29783665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558843014	chr5:29783671-29783672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs576990145	chr5:29783703-29783704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540833833	chr5:29783751-29783752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs62348706	chr5:29783755-29783756	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369254257	chr5:29783757-29783758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs185288392	chr5:29783758-29783759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs58802063	chr5:29783759-29783760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376283005	chr5:29783761-29783762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572400264	chr5:29783764-29783765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140798914	chr5:29783772-29783773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs189869567	chr5:29783795-29783796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13357907	chr5:29783813-29783814	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs373517479	chr5:29783839-29783840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532755422	chr5:29783845-29783846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs547708700	chr5:29783857-29783858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs67117069	chr5:29783867-29783868	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115085535	chr5:29783871-29783872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs149692228	chr5:29784030-29784031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs530269655	chr5:29784087-29784088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181414661	chr5:29784093-29784094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537415010	chr5:29784106-29784107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558906435	chr5:29784125-29784126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570692707	chr5:29784154-29784155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186488548	chr5:29784168-29784169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs13154205	chr5:29784174-29784175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs201407586	chr5:29784184-29784185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201704165	chr5:29784185-29784186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs199965109	chr5:29784186-29784187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs57139907	chr5:29784187-29784188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58616529	chr5:29784189-29784190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs57353551	chr5:29784196-29784197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374577404	chr5:29784199-29784200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs57601973	chr5:29784201-29784202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56302128	chr5:29784204-29784205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199809187	chr5:29784214-29784215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200656857	chr5:29784215-29784216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs58448462	chr5:29784220-29784221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs55823103	chr5:29784222-29784223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552932276	chr5:29784226-29784227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56231754	chr5:29784234-29784235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs13356348	chr5:29784240-29784241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Multiple myeloma	17550852	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:29781200-29788400	Weak transcription	HepG2	liver
2	chr5:29785000-29785400	Enhancers	Fetal Intestine Large	intestine
3	chr5:29785200-29785600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:29785200-29785600	Enhancers	Fetal Intestine Small	intestine
5	chr5:29785400-29787800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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