Variant report

Variant	esv1811781
Chromosome Location	chr5:28932258-28942952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:28932533..28934760-chr5:29193358..29195088,2	K562	blood:
2	chr5:28931474..28933182-chr5:28934926..28937639,2	K562	blood:
3	chr5:28931474..28933182-chr5:28934926..28937639,2	K562	blood:
4	chr2:67877825..67878403-chr5:28935689..28936434,2	MCF-7	breast:
5	chr5:28932061..28932561-chr5:41904130..41905026,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000205765	chromatin interactions

Extended variants
information (count: 335 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs694504	chr5:28932258-28932259	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs629925	chr5:28932262-28932263	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544385985	chr5:28932273-28932274	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs142591615	chr5:28932287-28932288	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs543067956	chr5:28932298-28932299	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs58756093	chr5:28932341-28932342	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs397693332	chr5:28932344-28932345	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs5016901	chr5:28932345-28932346	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs5866900	chr5:28932346-28932347	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs13172615	chr5:28932357-28932358	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs13172622	chr5:28932364-28932365	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs694336	chr5:28932369-28932370	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2173972	chr5:28932390-28932391	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs532153219	chr5:28932402-28932403	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs527976661	chr5:28932426-28932427	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs574686843	chr5:28932430-28932431	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs562987818	chr5:28932551-28932552	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs187630498	chr5:28932555-28932556	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs79315682	chr5:28935026-28935027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs78465055	chr5:28935032-28935033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558390215	chr5:28935091-28935092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576742792	chr5:28935140-28935141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534292518	chr5:28935144-28935145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs530651731	chr5:28935160-28935161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148016154	chr5:28935163-28935164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566800795	chr5:28935168-28935169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574464998	chr5:28935237-28935238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541605972	chr5:28935265-28935266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs535795963	chr5:28935273-28935274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13188889	chr5:28935311-28935312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs547957482	chr5:28935360-28935361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544044120	chr5:28935382-28935383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs565548144	chr5:28935411-28935412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532882886	chr5:28935437-28935438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs547798339	chr5:28935468-28935469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574639027	chr5:28935477-28935478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs367929367	chr5:28935480-28935481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs314799	chr5:28935532-28935533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs141669360	chr5:28935550-28935551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188132697	chr5:28935577-28935578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs570144157	chr5:28935588-28935589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs191282453	chr5:28935603-28935604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182754857	chr5:28935617-28935618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115789892	chr5:28935652-28935653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs570396033	chr5:28935659-28935660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150106478	chr5:28935671-28935672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552546133	chr5:28935673-28935674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567917118	chr5:28935686-28935687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs535438529	chr5:28935701-28935702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs556744972	chr5:28935838-28935839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
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
Renal cell carcinoma	18194544	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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28935000-28958800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:28940200-28941200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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