Variant report

Variant	esv3470338
Chromosome Location	chr5:7836900-7842201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 195 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:195 , 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	rs162020	chr5:7836900-7836901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs79249707	chr5:7836925-7836926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527301324	chr5:7836941-7836942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs162021	chr5:7836945-7836946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs326186	chr5:7836956-7836957	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs575443988	chr5:7836998-7836999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78710853	chr5:7837001-7837002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556379371	chr5:7837002-7837003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78470194	chr5:7837029-7837030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182082786	chr5:7837117-7837118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146887494	chr5:7837137-7837138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs568619830	chr5:7837166-7837167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149003703	chr5:7837228-7837229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537759944	chr5:7837266-7837267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs552545977	chr5:7837285-7837286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs533960785	chr5:7837330-7837331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187231472	chr5:7837391-7837392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573777470	chr5:7837395-7837396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190805848	chr5:7837492-7837493	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs568311399	chr5:7837587-7837588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562737722	chr5:7837597-7837598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182729587	chr5:7837615-7837616	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570448252	chr5:7837629-7837630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116304865	chr5:7837640-7837641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565446259	chr5:7837768-7837769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs367744336	chr5:7837771-7837772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527254002	chr5:7837822-7837823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs326187	chr5:7837843-7837844	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs560973675	chr5:7837849-7837850	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72001	chr5:7837861-7837862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs143773824	chr5:7837920-7837921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569825358	chr5:7837922-7837923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs116276403	chr5:7838010-7838011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148132068	chr5:7838059-7838060	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs89599	chr5:7838085-7838086	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs140197277	chr5:7838122-7838123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs553856986	chr5:7838123-7838124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs573742895	chr5:7838178-7838179	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs114499490	chr5:7838242-7838243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73737639	chr5:7838307-7838308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556250475	chr5:7838336-7838337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576184827	chr5:7838354-7838355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545296841	chr5:7838356-7838357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs729126	chr5:7838364-7838365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572635506	chr5:7838375-7838376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552552339	chr5:7838406-7838407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs564193482	chr5:7838423-7838424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs146946110	chr5:7838426-7838427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374608593	chr5:7838444-7838445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577537658	chr5:7838466-7838467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:7828400-7839000	Weak transcription	Fetal Brain Female	brain
2	chr5:7829200-7837200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr5:7829200-7842400	Weak transcription	Brain Anterior Caudate	brain
4	chr5:7833800-7837600	Weak transcription	Fetal Lung	lung
5	chr5:7833800-7849000	Weak transcription	Fetal Brain Male	brain
6	chr5:7836000-7838600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr5:7837400-7838200	Enhancers	Fetal Kidney	kidney
8	chr5:7837600-7837800	Enhancers	Fetal Lung	lung
9	chr5:7838600-7839000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:7842000-7842800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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