Variant report

Variant	esv2064601
Chromosome Location	chr8:67195582-67195930
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117783074	chr8:67195606-67195607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs4027222	chr8:67195640-67195641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545188646	chr8:67195661-67195662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs565433847	chr8:67195665-67195666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs141731938	chr8:67195678-67195679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs367713458	chr8:67195679-67195680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140486001	chr8:67195695-67195696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183744074	chr8:67195701-67195702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4543527	chr8:67195703-67195704	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs147671340	chr8:67195707-67195708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548991604	chr8:67195723-67195724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs562365357	chr8:67195739-67195740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs368549698	chr8:67195748-67195749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374339230	chr8:67195749-67195750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs531396972	chr8:67195761-67195762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs376275124	chr8:67195773-67195774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4260881	chr8:67195774-67195775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs562794483	chr8:67195780-67195781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs571418829	chr8:67195781-67195782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201265694	chr8:67195786-67195787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575010474	chr8:67195790-67195791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371263630	chr8:67195793-67195794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376788944	chr8:67195795-67195796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368530565	chr8:67195806-67195807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368560534	chr8:67195813-67195814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372696935	chr8:67195817-67195818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190573545	chr8:67195819-67195820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs536575356	chr8:67195832-67195833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs140706210	chr8:67195833-67195834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369294585	chr8:67195834-67195835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556488904	chr8:67195845-67195846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs56250950	chr8:67195846-67195847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546137215	chr8:67195876-67195877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576366446	chr8:67195900-67195901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
T-cell prolymphocytic leukemia	17713554	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Hodgkin''s lymphoma	18641027	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67187000-67197200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:67192000-67195600	Enhancers	Fetal Muscle Leg	muscle
3	chr8:67194200-67203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67194800-67196000	Weak transcription	Fetal Heart	heart
5	chr8:67195200-67195600	Enhancers	Fetal Muscle Trunk	muscle
6	chr8:67195600-67196400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:67195600-67196600	Weak transcription	Fetal Muscle Leg	muscle

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