Variant report

Variant	esv2756711
Chromosome Location	chr8:63220809-63227297
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557662347	chr8:63225205-63225206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573730392	chr8:63225222-63225223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs575842952	chr8:63225225-63225226	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs540034209	chr8:63225226-63225227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557884337	chr8:63225227-63225228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149486629	chr8:63225283-63225284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540296001	chr8:63225317-63225318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143848702	chr8:63225319-63225320	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574009347	chr8:63225342-63225343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571710904	chr8:63225382-63225383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs56252388	chr8:63225383-63225384	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs386412905	chr8:63225393-63225394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs397731497	chr8:63225395-63225396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559379906	chr8:63225435-63225436	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148611425	chr8:63225451-63225452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs534868776	chr8:63225476-63225477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs563643046	chr8:63225526-63225527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551710347	chr8:63225529-63225530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530673693	chr8:63225532-63225533	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552401214	chr8:63225725-63225726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs142084699	chr8:63225733-63225734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528210086	chr8:63225802-63225803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs57423424	chr8:63225848-63225849	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs568040300	chr8:63225867-63225868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139769294	chr8:63225876-63225877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530587094	chr8:63225897-63225898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550267874	chr8:63225900-63225901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs202137261	chr8:63225932-63225933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550681282	chr8:63225998-63225999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs78787775	chr8:63226007-63226008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576444438	chr8:63226009-63226010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185256867	chr8:63226091-63226092	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs190739650	chr8:63226093-63226094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs35649814	chr8:63226121-63226122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs144361783	chr8:63226128-63226129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs534107430	chr8:63226144-63226145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs563936804	chr8:63226174-63226175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555489646	chr8:63226175-63226176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574041741	chr8:63226177-63226178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs181530778	chr8:63226180-63226181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs80225632	chr8:63226202-63226203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs575513407	chr8:63226236-63226237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186255737	chr8:63226264-63226265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146609023	chr8:63226292-63226293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs557636269	chr8:63226312-63226313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs140964902	chr8:63226325-63226326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75960455	chr8:63226346-63226347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529454726	chr8:63226376-63226377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs528935777	chr8:63226417-63226418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs73683094	chr8:63226466-63226467	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63225200-63225600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr8:63225200-63227000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:63225600-63234400	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr8:63226800-63227400	Enhancers	Adipose Nuclei	Adipose
5	chr8:63227000-63227600	Enhancers	Colon Smooth Muscle	Colon

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