Variant report

Variant	esv2195824
Chromosome Location	chr8:92152664-92153380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142298095	chr8:92152720-92152721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558999312	chr8:92152768-92152769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191427520	chr8:92152778-92152779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182977593	chr8:92152784-92152785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs374700284	chr8:92152791-92152792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145408222	chr8:92152821-92152822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541390800	chr8:92152860-92152861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146422418	chr8:92152873-92152874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201293433	chr8:92152874-92152875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199804468	chr8:92152876-92152877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559814354	chr8:92152899-92152900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs71528771	chr8:92152968-92152969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs71528772	chr8:92153039-92153040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375866703	chr8:92153106-92153107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377527261	chr8:92153123-92153124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs542450314	chr8:92153135-92153136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs200219592	chr8:92153149-92153150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs202132415	chr8:92153180-92153181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs373183511	chr8:92153218-92153219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs77170494	chr8:92153229-92153230	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs531127021	chr8:92153248-92153249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552029977	chr8:92153256-92153257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs115009600	chr8:92153360-92153361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528103123	chr8:92153374-92153375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73697114	chr8:92153378-92153379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:116)

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
Autism	22495311	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	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
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
Acute lymphoblastic leukemia	18458336	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
Epilepsy	20502679	CNVD
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:92121800-92152800	Weak transcription	NHEK	skin
2	chr8:92121800-92153600	Weak transcription	Liver	Liver
3	chr8:92124600-92154800	Weak transcription	Gastric	stomach
4	chr8:92124800-92154800	Weak transcription	Lung	lung
5	chr8:92125000-92156400	Weak transcription	Adipose Nuclei	Adipose
6	chr8:92139400-92155600	Weak transcription	GM12878-XiMat	blood
7	chr8:92144000-92157800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:92147000-92153400	Weak transcription	Primary T cells from cord blood	blood
9	chr8:92147000-92165600	Weak transcription	Psoas Muscle	Psoas
10	chr8:92147200-92153600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr8:92153200-92154200	Enhancers	Colon Smooth Muscle	Colon
12	chr8:92153200-92157000	Enhancers	Rectal Smooth Muscle	rectum

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