Variant report

Variant	esv3479342
Chromosome Location	chr8:62676688-62676844
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62675193..62676843-chr8:62690905..62693820,2	K562	blood:
2	chr8:62653602..62655933-chr8:62675000..62677702,2	K562	blood:
3	chr8:62675951..62679045-chr8:63950013..63952575,3	K562	blood:
4	chr8:62616378..62628548-chr8:62667442..62677691,25	K562	blood:
5	chr8:62675249..62677916-chr8:62678109..62679621,2	MCF-7	breast:
6	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:

Variant related genes	Relation type
ENSG00000198363	chromatin interactions
ENSG00000137563	chromatin interactions
ENSG00000264408	chromatin interactions
ENSG00000251127	chromatin interactions

Extended variants
information (count: 7 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571019667	chr8:62676691-62676692	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs80169824	chr8:62676695-62676696	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs191896481	chr8:62676704-62676705	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs72660905	chr8:62676719-62676720	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs560570435	chr8:62676775-62676776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs535943208	chr8:62676836-62676837	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs182601558	chr8:62676841-62676842	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:98)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
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
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	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
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	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
Colorectal cancer	16272173	CNVD
Melanoma	22183965	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
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62672800-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr8:62673000-62677000	Enhancers	HepG2	liver
3	chr8:62673600-62678400	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr8:62673600-62678400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:62673600-62678600	Weak transcription	Fetal Lung	lung
6	chr8:62673800-62677200	Enhancers	K562	blood
7	chr8:62674200-62678400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:62674200-62679200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:62674200-62679400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:62674400-62681600	Enhancers	Hela-S3	cervix
11	chr8:62674600-62678400	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:62674600-62679200	Weak transcription	NH-A	brain
13	chr8:62674800-62676800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr8:62675000-62679000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr8:62675200-62678400	Weak transcription	NHLF	lung
16	chr8:62675200-62678800	Weak transcription	Osteobl	bone
17	chr8:62675200-62679400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr8:62675400-62679400	Weak transcription	HMEC	breast
19	chr8:62675400-62679400	Weak transcription	NHEK	skin
20	chr8:62675800-62677000	Genic enhancers	A549	lung
21	chr8:62676200-62676800	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr8:62676200-62678400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:62676400-62677000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:62676600-62678400	Weak transcription	NHDF-Ad	bronchial
25	chr8:62676800-62678400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr8:62676800-62678400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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