Variant report

Variant	esv12734
Chromosome Location	chr5:8775955-8780362
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2904951	chr5:8775997-8775998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs2904950	chr5:8776002-8776003	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148985261	chr5:8776025-8776026	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs561469322	chr5:8776027-8776028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574421031	chr5:8776036-8776037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547500871	chr5:8776038-8776039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs190093566	chr5:8776061-8776062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116076170	chr5:8776073-8776074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs75034901	chr5:8776082-8776083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559182917	chr5:8776097-8776098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528373464	chr5:8776101-8776102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34177325	chr5:8776110-8776111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547957399	chr5:8776118-8776119	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs116392794	chr5:8776123-8776124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138320289	chr5:8776145-8776146	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143856163	chr5:8776162-8776163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112970201	chr5:8776268-8776269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147235944	chr5:8776363-8776364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56009636	chr5:8776413-8776414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397711393	chr5:8776414-8776415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369039579	chr5:8776415-8776416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs202074271	chr5:8776417-8776418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202212772	chr5:8776418-8776419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200528116	chr5:8776419-8776420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2904949	chr5:8776426-8776427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs138132420	chr5:8776428-8776429	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148780899	chr5:8776429-8776430	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs11748315	chr5:8776430-8776431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs397958217	chr5:8776437-8776438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201340679	chr5:8776448-8776449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535361170	chr5:8776450-8776451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34035799	chr5:8776468-8776469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs554829126	chr5:8776471-8776472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575011152	chr5:8776503-8776504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543150584	chr5:8776504-8776505	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs56702810	chr5:8776524-8776525	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs549863088	chr5:8776535-8776536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149418118	chr5:8776546-8776547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545347239	chr5:8776573-8776574	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566334663	chr5:8776597-8776598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536958723	chr5:8776598-8776599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs558948549	chr5:8776611-8776612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs182621655	chr5:8776612-8776613	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541758939	chr5:8776636-8776637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs561713516	chr5:8776638-8776639	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186598424	chr5:8776646-8776647	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2938829	chr5:8776664-8776665	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs191334654	chr5:8776674-8776675	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs537984747	chr5:8776714-8776715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185437859	chr5:8776722-8776723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8775200-8776200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:8775200-8776200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:8775200-8776200	Enhancers	Osteobl	bone
4	chr5:8775200-8776400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr5:8775200-8776600	Enhancers	HMEC	breast
6	chr5:8775200-8777800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr5:8775400-8776000	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr5:8775400-8776200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr5:8775400-8776200	Enhancers	NH-A	brain
10	chr5:8775400-8776400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:8775600-8776200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr5:8775800-8776200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:8776200-8777200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr5:8776600-8777000	Weak transcription	HMEC	breast
15	chr5:8777000-8778000	Enhancers	HMEC	breast
16	chr5:8777200-8777600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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