Variant report

Variant	esv3345204
Chromosome Location	chr8:85400415-85400741
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4740015	chr8:85400423-85400424	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4740016	chr8:85400435-85400436	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs375667766	chr8:85400449-85400450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs544906986	chr8:85400454-85400455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561496161	chr8:85400467-85400468	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530256339	chr8:85400484-85400485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10090567	chr8:85400485-85400486	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs566454168	chr8:85400495-85400496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376464232	chr8:85400515-85400516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532187382	chr8:85400554-85400555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146887246	chr8:85400576-85400577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568504479	chr8:85400617-85400618	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs76456965	chr8:85400623-85400624	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554464126	chr8:85400642-85400643	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140650028	chr8:85400643-85400644	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145814741	chr8:85400649-85400650	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553882628	chr8:85400654-85400655	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573300772	chr8:85400659-85400660	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs538223213	chr8:85400686-85400687	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs368421756	chr8:85400712-85400713	Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Acute lymphoblastic leukemia	22237106	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
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85399800-85401000	Enhancers	Fetal Intestine Large	intestine
2	chr8:85399800-85401000	Enhancers	Fetal Intestine Small	intestine
3	chr8:85400200-85400600	Enhancers	Liver	Liver
4	chr8:85400400-85400800	Enhancers	Duodenum Mucosa	Duodenum
5	chr8:85400600-85400800	Flanking Active TSS	Liver	Liver

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