Variant report

Variant	esv3449810
Chromosome Location	chr8:62174500-62174902
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374094060	chr8:62174534-62174535	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs71559329	chr8:62174535-62174536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576239865	chr8:62174551-62174552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs71899452	chr8:62174552-62174553	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140249059	chr8:62174553-62174554	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200948008	chr8:62174556-62174557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370310372	chr8:62174557-62174558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs28463260	chr8:62174559-62174560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs61199042	chr8:62174569-62174570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71257359	chr8:62174579-62174580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs57278209	chr8:62174581-62174582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs578083853	chr8:62174600-62174601	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192415367	chr8:62174627-62174628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs548025018	chr8:62174646-62174647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139061927	chr8:62174679-62174680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527996530	chr8:62174715-62174716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2919315	chr8:62174729-62174730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182636798	chr8:62174730-62174731	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536478724	chr8:62174751-62174752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs35418604	chr8:62174840-62174841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370574882	chr8:62174861-62174862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7844667	chr8:62174880-62174881	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs550265228	chr8:62174881-62174882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2978491	chr8:62174901-62174902	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:93)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62170800-62176200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr8:62172000-62175200	Enhancers	Fetal Intestine Large	intestine
3	chr8:62172200-62174600	Enhancers	Fetal Intestine Small	intestine
4	chr8:62172400-62175200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr8:62172600-62175200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:62172600-62175200	Weak transcription	GM12878-XiMat	blood
7	chr8:62172800-62175200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr8:62172800-62176200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:62173200-62174600	Enhancers	Adipose Nuclei	Adipose
10	chr8:62174000-62174800	Enhancers	Duodenum Mucosa	Duodenum
11	chr8:62174200-62175600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:62174600-62177400	Weak transcription	Adipose Nuclei	Adipose

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