Variant report

Variant	esv3334374
Chromosome Location	chr8:103062126-103064224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103062774..103065761-chr8:103066216..103068204,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549617122	chr8:103062128-103062129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs370695622	chr8:103062177-103062178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527793322	chr8:103062183-103062184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567732808	chr8:103062186-103062187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs547456247	chr8:103062206-103062207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4248920	chr8:103062244-103062245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553098348	chr8:103062246-103062247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572711242	chr8:103062262-103062263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7815560	chr8:103062263-103062264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201493784	chr8:103062279-103062280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372744437	chr8:103062281-103062282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535567632	chr8:103062322-103062323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs60859760	chr8:103062360-103062361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547159665	chr8:103062376-103062377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs565707687	chr8:103062380-103062381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185722388	chr8:103062392-103062393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs71268541	chr8:103062423-103062424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs535308764	chr8:103062482-103062483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs56369037	chr8:103062508-103062509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557281316	chr8:103062538-103062539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575941739	chr8:103062602-103062603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375681063	chr8:103062611-103062612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190674485	chr8:103062647-103062648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1314532	chr8:103062698-103062699	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541555843	chr8:103062718-103062719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558829771	chr8:103062811-103062812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs7008610	chr8:103062867-103062868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62522999	chr8:103062890-103062891	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs545429240	chr8:103062900-103062901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117299805	chr8:103063013-103063014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs531256062	chr8:103063020-103063021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs118111815	chr8:103063021-103063022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561565834	chr8:103063029-103063030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs375309145	chr8:103063035-103063036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs181732193	chr8:103063077-103063078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544436811	chr8:103063108-103063109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528667629	chr8:103063123-103063124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs116910820	chr8:103063128-103063129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs562721168	chr8:103063166-103063167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114660168	chr8:103063278-103063279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs57967936	chr8:103063305-103063306	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139576724	chr8:103063332-103063333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs569281079	chr8:103063336-103063337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs185162389	chr8:103063344-103063345	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189574044	chr8:103063354-103063355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs4434591	chr8:103063450-103063451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567501289	chr8:103063459-103063460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs75597403	chr8:103063466-103063467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs553092099	chr8:103063469-103063470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs573769731	chr8:103063470-103063471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	17260012	CNVD
Sezary syndrome	18413736	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Cancer	20164920	CNVD
Urothelial cell carcinoma	18451213	CNVD
Colorectal cancer	21645411	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Ovarian cancer	20844748	CNVD
Colorectal cancer	16912164	CNVD
Breast cancer	20409316	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Breast cancer	21611746	CNVD
Oral squamous cell carcinoma	21853135	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103051600-103064600	Weak transcription	Fetal Muscle Leg	muscle
2	chr8:103053800-103072600	Weak transcription	Aorta	Aorta
3	chr8:103056600-103066000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:103057200-103064600	Weak transcription	Right Atrium	heart
5	chr8:103057400-103067200	Weak transcription	Fetal Heart	heart
6	chr8:103057400-103068600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:103057600-103068600	Weak transcription	Left Ventricle	heart
8	chr8:103057600-103068800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:103063200-103065800	Enhancers	Ovary	ovary
10	chr8:103063200-103066600	Enhancers	Fetal Brain Female	brain
11	chr8:103063400-103063600	Enhancers	Psoas Muscle	Psoas
12	chr8:103063400-103064600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr8:103063600-103064000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr8:103063600-103066600	Weak transcription	Psoas Muscle	Psoas
15	chr8:103063800-103067000	Enhancers	Fetal Brain Male	brain
16	chr8:103064000-103064600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:103064000-103064600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr8:103064200-103064400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr8:103064200-103064800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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