Variant report

Variant	esv3443283
Chromosome Location	chr8:60978948-60982646
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	chr8:60982406..60984048-chr8:61008444..61010010,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187656088	chr8:60978964-60978965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs16925658	chr8:60978975-60978976	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs550801612	chr8:60979012-60979013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs118188187	chr8:60979028-60979029	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533579148	chr8:60979042-60979043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551986783	chr8:60979102-60979103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567196246	chr8:60979111-60979112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs574837601	chr8:60979142-60979143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs202134642	chr8:60979143-60979144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs140855530	chr8:60979180-60979181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs62509878	chr8:60979201-60979202	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28655518	chr8:60979214-60979215	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs192507629	chr8:60979219-60979220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185020070	chr8:60979298-60979299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79803837	chr8:60979303-60979304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs575282921	chr8:60979311-60979312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545621368	chr8:60979326-60979327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529459899	chr8:60979359-60979360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544584181	chr8:60979361-60979362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34972725	chr8:60979364-60979365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs561588737	chr8:60979396-60979397	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Salivary gland tumor	18059337	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Schizophrenia	23813976	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60974200-60979000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:60978000-60979400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:60978400-60979200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr8:60979000-60979400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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