Variant report

Variant	esv3369439
Chromosome Location	chr5:12643452-12646950
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78261380	chr5:12643518-12643519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs58520287	chr5:12643532-12643533	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371960367	chr5:12643556-12643557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369706686	chr5:12643571-12643572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140068368	chr5:12643593-12643594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187521615	chr5:12643731-12643732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545726195	chr5:12643778-12643779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543876602	chr5:12643820-12643821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192487956	chr5:12643859-12643860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4702890	chr5:12643875-12643876	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183825264	chr5:12643891-12643892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs188892012	chr5:12643921-12643922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529057133	chr5:12643928-12643929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547540079	chr5:12643952-12643953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559298893	chr5:12643955-12643956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs533212055	chr5:12643989-12643990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551264671	chr5:12643990-12643991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs146962319	chr5:12643993-12643994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148320471	chr5:12644003-12644004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs371649382	chr5:12644032-12644033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs532934516	chr5:12644062-12644063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548649138	chr5:12644082-12644083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538733954	chr5:12644161-12644162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567380988	chr5:12644163-12644164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs12518818	chr5:12644215-12644216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs137974806	chr5:12644225-12644226	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552718202	chr5:12644283-12644284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192906556	chr5:12644288-12644289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539338489	chr5:12644300-12644301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182932809	chr5:12644312-12644313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575694076	chr5:12644325-12644326	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs72733268	chr5:12644349-12644350	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs142545184	chr5:12644426-12644427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547287705	chr5:12644440-12644441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573254386	chr5:12644486-12644487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114283238	chr5:12644559-12644560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568774621	chr5:12644566-12644567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559450950	chr5:12644573-12644574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78462633	chr5:12644599-12644600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs187305674	chr5:12644603-12644604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563275565	chr5:12644611-12644612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs370257722	chr5:12644633-12644634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146664714	chr5:12644719-12644720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73043716	chr5:12644783-12644784	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373592360	chr5:12644829-12644830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs11748674	chr5:12644859-12644860	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
47	rs12055239	chr5:12644961-12644962	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs34936344	chr5:12644972-12644973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72260661	chr5:12644973-12644974	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs539576574	chr5:12645072-12645073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	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
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-small cell lung cancer	17643093	CNVD
Renal cell carcinoma	18765545	CNVD
Schizophrenia	18940311	CNVD
Central neurocytomas	17123091	CNVD
Mental retardation	17847001	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	19546859	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	21346763	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:12636600-12643800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:12636600-12659200	Weak transcription	K562	blood
3	chr5:12636800-12655600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:12643800-12644600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:12644200-12644600	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:12644200-12644800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:12644400-12644600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr5:12644600-12657000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:12644600-12658400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:12644800-12654800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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