Variant report

Variant	esv3398172
Chromosome Location	chr8:59212313-59212581
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557570367	chr8:59212324-59212325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs574134436	chr8:59212339-59212340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550079977	chr8:59212350-59212351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs374602807	chr8:59212360-59212361	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184156352	chr8:59212361-59212362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs573161698	chr8:59212364-59212365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs545006664	chr8:59212367-59212368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs370288606	chr8:59212400-59212401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187124869	chr8:59212403-59212404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs4259404	chr8:59212429-59212430	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs149164115	chr8:59212439-59212440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs529869998	chr8:59212464-59212465	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117907418	chr8:59212498-59212499	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190791109	chr8:59212523-59212524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112385677	chr8:59212552-59212553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59210400-59212800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr8:59210400-59212800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:59210600-59212400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:59210600-59212600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:59210600-59212600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr8:59210600-59212800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr8:59210800-59212800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:59210800-59213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:59211000-59212400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:59211000-59212600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr8:59211200-59212400	Weak transcription	Fetal Heart	heart
12	chr8:59211200-59212600	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr8:59211600-59213200	Enhancers	Left Ventricle	heart
14	chr8:59211800-59212800	Weak transcription	Right Atrium	heart
15	chr8:59212200-59213200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr8:59212200-59213600	Enhancers	Placenta	Placenta
17	chr8:59212400-59213200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:59212400-59213600	Enhancers	Fetal Heart	heart
19	chr8:59212400-59213800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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