Variant report

Variant	esv3332695
Chromosome Location	chr5:93495396-93497444
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146614696	chr5:93495404-93495405	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140280173	chr5:93495429-93495430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531913334	chr5:93495476-93495477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545142926	chr5:93495506-93495507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs28637444	chr5:93495548-93495549	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575614465	chr5:93495575-93495576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6556841	chr5:93495631-93495632	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567583205	chr5:93495719-93495720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs529921451	chr5:93495802-93495803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs549634480	chr5:93495876-93495877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569530677	chr5:93495980-93495981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs533529786	chr5:93496011-93496012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543765657	chr5:93496022-93496023	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs74661445	chr5:93496083-93496084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557831296	chr5:93496087-93496088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529605791	chr5:93496108-93496109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113438520	chr5:93496124-93496125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs9790957	chr5:93496157-93496158	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs182764281	chr5:93496177-93496178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144050123	chr5:93496281-93496282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553866991	chr5:93496301-93496302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs376879596	chr5:93496315-93496316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566054805	chr5:93496324-93496325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs146414648	chr5:93496339-93496340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542973862	chr5:93496340-93496341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs140712081	chr5:93496366-93496367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528617112	chr5:93496405-93496406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs150156608	chr5:93496429-93496430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs6882733	chr5:93496455-93496456	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182084826	chr5:93496529-93496530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115518340	chr5:93496544-93496545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs541047827	chr5:93496590-93496591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs1371285	chr5:93496811-93496812	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs529655563	chr5:93496843-93496844	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77097349	chr5:93496881-93496882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs569567735	chr5:93496885-93496886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537201668	chr5:93496899-93496900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186189341	chr5:93496904-93496905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs551943265	chr5:93496908-93496909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs571748164	chr5:93496941-93496942	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs375608649	chr5:93496971-93496972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556874026	chr5:93496972-93496973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs534015048	chr5:93497010-93497011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs138639925	chr5:93497037-93497038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73773579	chr5:93497083-93497084	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs536610349	chr5:93497092-93497093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556902078	chr5:93497124-93497125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576808406	chr5:93497183-93497184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190563937	chr5:93497205-93497206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182942696	chr5:93497221-93497222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:93485000-93495400	Weak transcription	Pancreas	Pancrea
2	chr5:93486800-93496800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:93489200-93499200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:93493200-93495400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:93493800-93506600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr5:93494000-93495400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:93494400-93495800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr5:93494600-93507000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:93495000-93497800	Weak transcription	Fetal Lung	lung
10	chr5:93495200-93506400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr5:93495200-93508400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr5:93495400-93495800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:93495400-93506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:93495800-93496000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr5:93496000-93506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:93496800-93497000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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