Variant report

Variant	esv3403044
Chromosome Location	chr5:42886501-42887253
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	chr5:42874819..42877698-chr5:42883856..42886524,3	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3080570	chr5:42886512-42886513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34267604	chr5:42886513-42886514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386403684	chr5:42886514-42886515	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72528605	chr5:42886515-42886516	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397688950	chr5:42886516-42886517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs549977887	chr5:42886520-42886521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77623330	chr5:42886526-42886527	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535199185	chr5:42886527-42886528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs113979883	chr5:42886531-42886532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs565501149	chr5:42886551-42886552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73751270	chr5:42886639-42886640	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs221590	chr5:42886682-42886683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs144890635	chr5:42886753-42886754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541256934	chr5:42886762-42886763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544438619	chr5:42886806-42886807	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs11746790	chr5:42886820-42886821	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs144609125	chr5:42886875-42886876	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs541911787	chr5:42886910-42886911	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs560545606	chr5:42886985-42886986	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs527651720	chr5:42886986-42886987	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs533229396	chr5:42886999-42887000	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs372683074	chr5:42887014-42887015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140301613	chr5:42887018-42887019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs551279188	chr5:42887062-42887063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs564399417	chr5:42887097-42887098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs56982486	chr5:42887107-42887108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs315265	chr5:42887166-42887167	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs188195333	chr5:42887197-42887198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs55981030	chr5:42887206-42887207	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528997182	chr5:42887210-42887211	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs143540082	chr5:42887217-42887218	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs34086275	chr5:42887238-42887239	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	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	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42876200-42887200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:42877800-42887600	Weak transcription	Adipose Nuclei	Adipose
3	chr5:42878800-42890000	Enhancers	HepG2	liver
4	chr5:42881800-42887400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:42882000-42887400	Weak transcription	Liver	Liver
6	chr5:42885800-42889600	Enhancers	Fetal Intestine Large	intestine
7	chr5:42886000-42889200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr5:42886000-42890000	Enhancers	Fetal Intestine Small	intestine
9	chr5:42886600-42887400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:42886800-42887000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:42886800-42887000	Enhancers	Small Intestine	intestine
12	chr5:42886800-42887000	Bivalent Enhancer	Hela-S3	cervix
13	chr5:42886800-42887600	Enhancers	Brain Anterior Caudate	brain
14	chr5:42886800-42888000	Enhancers	Fetal Lung	lung
15	chr5:42886800-42888200	Enhancers	Brain Cingulate Gyrus	brain
16	chr5:42887000-42887800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr5:42887000-42888000	Enhancers	Hela-S3	cervix
18	chr5:42887200-42887400	Bivalent Enhancer	K562	blood
19	chr5:42887200-42887600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:42887200-42888000	Enhancers	Brain Angular Gyrus	brain
21	chr5:42887200-42888000	Enhancers	NHEK	skin

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