Variant report

Variant	esv3335990
Chromosome Location	chr8:62665048-62667346
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:62662413..62665090-chr8:62669593..62672242,2	K562	blood:
2	chr8:62660931..62663010-chr8:62666480..62668831,2	K562	blood:
3	chr8:62618042..62628934-chr8:62666240..62683608,38	K562	blood:
4	chr8:62657535..62660480-chr8:62666874..62669371,2	K562	blood:

Variant related genes	Relation type
ENSG00000264408	chromatin interactions
ENSG00000198363	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534925105	chr8:62665101-62665102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs62506009	chr8:62665213-62665214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537187357	chr8:62665320-62665321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs547135624	chr8:62665446-62665447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs568479162	chr8:62665513-62665514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs371106910	chr8:62665514-62665515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374271111	chr8:62665664-62665665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs111698780	chr8:62665700-62665701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368343246	chr8:62666021-62666022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142758521	chr8:62666045-62666046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375464473	chr8:62666089-62666090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367612822	chr8:62666289-62666290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs575702287	chr8:62666318-62666319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539804422	chr8:62666335-62666336	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs191235186	chr8:62666397-62666398	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs573347483	chr8:62666414-62666415	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs540884743	chr8:62666422-62666423	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs559477417	chr8:62666433-62666434	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs574689960	chr8:62666443-62666444	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs542096839	chr8:62666463-62666464	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs147334411	chr8:62666556-62666557	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs563199328	chr8:62666567-62666568	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs530425740	chr8:62666594-62666595	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs564652010	chr8:62666616-62666617	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs184015194	chr8:62666625-62666626	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs551724999	chr8:62666627-62666628	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs141009301	chr8:62666630-62666631	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs188352354	chr8:62666631-62666632	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs369424444	chr8:62666635-62666636	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs563852043	chr8:62666636-62666637	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs373973201	chr8:62666637-62666638	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs376976965	chr8:62666641-62666642	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs79031690	chr8:62666647-62666648	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs544021809	chr8:62666650-62666651	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs77445720	chr8:62666653-62666654	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs79301340	chr8:62666659-62666660	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs148920628	chr8:62666665-62666666	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs78029215	chr8:62666671-62666672	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs144196471	chr8:62666677-62666678	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs539863007	chr8:62666678-62666679	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs79625472	chr8:62666683-62666684	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs573284165	chr8:62666684-62666685	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs534295483	chr8:62666686-62666687	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs138689486	chr8:62666688-62666689	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs78810662	chr8:62666689-62666690	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs73271282	chr8:62666695-62666696	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs571743886	chr8:62666698-62666699	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs150682801	chr8:62666705-62666706	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs182064126	chr8:62666706-62666707	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs377200755	chr8:62666709-62666710	Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:97)

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

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62658600-62666800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:62661400-62666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr8:62663200-62666400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:62663400-62666800	Weak transcription	Stomach Mucosa	stomach
5	chr8:62664200-62669000	Weak transcription	HepG2	liver
6	chr8:62664400-62666800	Weak transcription	A549	lung
7	chr8:62664400-62666800	Weak transcription	Hela-S3	cervix
8	chr8:62666400-62666800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:62666800-62667000	Flanking Active TSS	Hela-S3	cervix
10	chr8:62666800-62667000	Enhancers	NH-A	brain
11	chr8:62666800-62667200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr8:62666800-62667200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr8:62666800-62667200	Enhancers	Stomach Mucosa	stomach
14	chr8:62666800-62667200	Enhancers	Osteobl	bone
15	chr8:62666800-62667400	Enhancers	A549	lung
16	chr8:62666800-62667800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr8:62667000-62667200	Enhancers	Hela-S3	cervix
18	chr8:62667200-62667400	Flanking Active TSS	Hela-S3	cervix
19	chr8:62667200-62668200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:62667200-62668200	Weak transcription	Stomach Mucosa	stomach
21	chr8:62667200-62668400	Weak transcription	Osteobl	bone
22	chr8:62667200-62669000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:62667200-62669000	Weak transcription	NH-A	brain
24	chr8:62667200-62669600	Enhancers	Adipose Nuclei	Adipose

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