Variant report

Variant	esv1792293
Chromosome Location	chr5:8244864-8259641
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:8247458..8248066-chr5:8425960..8426700,2	MCF-7	breast:
2	chr5:8247174..8250138-chr5:8252454..8254787,2	K562	blood:
3	chr5:8247316..8248146-chr5:8426139..8426948,3	MCF-7	breast:
4	chr5:8247174..8250138-chr5:8252454..8254787,2	K562	blood:

Extended variants
information (count: 328 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533607519	chr5:8245602-8245603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546877599	chr5:8245656-8245657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567159661	chr5:8245690-8245691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs529505565	chr5:8245691-8245692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548587841	chr5:8245765-8245766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs574515004	chr5:8245790-8245791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537426544	chr5:8245817-8245818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs371974745	chr5:8245820-8245821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs557870174	chr5:8245889-8245890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542273824	chr5:8245902-8245903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs534039227	chr5:8245904-8245905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113911746	chr5:8245951-8245952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs207465515	chr5:8245953-8245954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553638298	chr5:8246009-8246010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs188829995	chr5:8246010-8246011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs369741435	chr5:8246011-8246012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539447786	chr5:8246073-8246074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs542906635	chr5:8246081-8246082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551893513	chr5:8246122-8246123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10475414	chr5:8246141-8246142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575734568	chr5:8246299-8246300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116641792	chr5:8246320-8246321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs564651425	chr5:8246356-8246357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533225053	chr5:8246373-8246374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566837637	chr5:8246393-8246394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375276453	chr5:8246434-8246435	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs193224142	chr5:8246442-8246443	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs74441200	chr5:8246456-8246457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534425065	chr5:8246472-8246473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs79390923	chr5:8246486-8246487	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564897508	chr5:8246496-8246497	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs184455006	chr5:8246509-8246510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368886782	chr5:8246564-8246565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551085830	chr5:8246580-8246581	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs116336409	chr5:8246608-8246609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs141291055	chr5:8246609-8246610	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143621436	chr5:8246614-8246615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs188089418	chr5:8246635-8246636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567437048	chr5:8246644-8246645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556020563	chr5:8246645-8246646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs536426913	chr5:8246686-8246687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556530358	chr5:8246690-8246691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574254350	chr5:8246724-8246725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373252288	chr5:8246756-8246757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs544599190	chr5:8246774-8246775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538551047	chr5:8246775-8246776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs376406431	chr5:8246861-8246862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556573886	chr5:8246875-8246876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs191849761	chr5:8246901-8246902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369928936	chr5:8246913-8246914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
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
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
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	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

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8245600-8248600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:8246400-8248000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:8247200-8247400	Enhancers	Fetal Lung	lung
4	chr5:8247200-8247600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:8247200-8247600	Enhancers	Fetal Stomach	stomach
6	chr5:8247600-8247800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr5:8248600-8249000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:8254200-8254800	Enhancers	Fetal Kidney	kidney
9	chr5:8254600-8255400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr5:8255000-8255600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr5:8255000-8258600	Weak transcription	Psoas Muscle	Psoas
12	chr5:8258800-8259400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr5:8258800-8259400	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr5:8258800-8259600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:8258800-8259800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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