Variant report

Variant	esv1817587
Chromosome Location	chr5:5103652-5109824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 190 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:190 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28706238	chr5:5103652-5103653	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542684507	chr5:5103660-5103661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73738330	chr5:5103666-5103667	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs576182441	chr5:5103667-5103668	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545193383	chr5:5103684-5103685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150744557	chr5:5103704-5103705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369472483	chr5:5103713-5103714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568998630	chr5:5103729-5103730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs540248727	chr5:5103781-5103782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560241147	chr5:5103830-5103831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559862995	chr5:5103865-5103866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528997329	chr5:5103969-5103970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs190052458	chr5:5103983-5103984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs569078409	chr5:5104028-5104029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs78145025	chr5:5104071-5104072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs74582601	chr5:5104072-5104073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs372517455	chr5:5104084-5104085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs74288235	chr5:5104108-5104109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs28392909	chr5:5104149-5104150	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs547793279	chr5:5104155-5104156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182640478	chr5:5104187-5104188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs540241364	chr5:5104190-5104191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs149715387	chr5:5104191-5104192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs860953	chr5:5104198-5104199	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs553968109	chr5:5104200-5104201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139116135	chr5:5104219-5104220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576118597	chr5:5104248-5104249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538634582	chr5:5104270-5104271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs16874707	chr5:5104273-5104274	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs185569925	chr5:5104320-5104321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs575248747	chr5:5104356-5104357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572718938	chr5:5104406-5104407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200815235	chr5:5104445-5104446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191405973	chr5:5104447-5104448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs560100072	chr5:5104460-5104461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573635815	chr5:5104495-5104496	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542644948	chr5:5104501-5104502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183684180	chr5:5104510-5104511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562616028	chr5:5104576-5104577	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531420990	chr5:5104599-5104600	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs551632392	chr5:5104605-5104606	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73032456	chr5:5104668-5104669	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs527599320	chr5:5104735-5104736	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547328378	chr5:5104745-5104746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567548536	chr5:5104749-5104750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536287080	chr5:5104756-5104757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369347910	chr5:5104760-5104761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554880204	chr5:5104767-5104768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542838617	chr5:5104773-5104774	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538716976	chr5:5104776-5104777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Glioblastoma multiforme	22286061	CNVD
Lung cancer	21911935	CNVD
Cri-du chat syndrome	21549014	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Sudden cardiac death	19188705	CNVD
renal disease	17924346	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
T-cell prolymphocytic leukemia	17713554	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Developmental delay	21147756	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
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Schizophrenia	23813976	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:5103200-5103800	Enhancers	HSMM	muscle
2	chr5:5103800-5105200	Weak transcription	HSMM	muscle
3	chr5:5104400-5105400	Enhancers	NHEK	skin
4	chr5:5104400-5106400	Enhancers	HMEC	breast
5	chr5:5104600-5104800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr5:5104600-5104800	Enhancers	Fetal Kidney	kidney
7	chr5:5104600-5105400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:5104800-5105200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr5:5105200-5106400	Enhancers	HSMM	muscle
10	chr5:5105400-5105800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:5105400-5106000	Weak transcription	NHEK	skin
12	chr5:5105800-5106400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr5:5106000-5106200	Enhancers	NHEK	skin
14	chr5:5108000-5108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr5:5108000-5108600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr5:5108200-5115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr5:5108400-5108800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr5:5108400-5109000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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