Variant report

Variant	esv3331288
Chromosome Location	chr8:64035448-64037696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186416967	chr8:64037021-64037022	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs191221253	chr8:64037037-64037038	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs540822671	chr8:64037048-64037049	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs562379947	chr8:64037116-64037117	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs529566437	chr8:64037119-64037120	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs182590076	chr8:64037147-64037148	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs370333429	chr8:64037170-64037171	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564912674	chr8:64037174-64037175	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs562471084	chr8:64037184-64037185	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532775884	chr8:64037185-64037186	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs540940931	chr8:64037186-64037187	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs551499470	chr8:64037187-64037188	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs371784108	chr8:64037229-64037230	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs566433819	chr8:64037249-64037250	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs371919624	chr8:64037263-64037264	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs60028259	chr8:64037274-64037275	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs529419471	chr8:64037301-64037302	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12544951	chr8:64037304-64037305	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs187718620	chr8:64037323-64037324	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs191247086	chr8:64037326-64037327	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs556166399	chr8:64037333-64037334	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs575620100	chr8:64037343-64037344	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559582408	chr8:64037344-64037345	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs528486459	chr8:64037353-64037354	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34802823	chr8:64037354-64037355	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs71255379	chr8:64037364-64037365	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs111755201	chr8:64037369-64037370	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs573219265	chr8:64037405-64037406	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs182453850	chr8:64037407-64037408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs562238863	chr8:64037414-64037415	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs147327589	chr8:64037444-64037445	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs544956080	chr8:64037484-64037485	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs563020190	chr8:64037493-64037494	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs187487144	chr8:64037548-64037549	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs72659879	chr8:64037557-64037558	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs35457639	chr8:64037564-64037565	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs192051830	chr8:64037573-64037574	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs67836168	chr8:64037584-64037585	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs567154933	chr8:64037589-64037590	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs73254933	chr8:64037600-64037601	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs550093200	chr8:64037610-64037611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571444104	chr8:64037628-64037629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374741676	chr8:64037652-64037653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs550752942	chr8:64037653-64037654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs539833066	chr8:64037661-64037662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs557823775	chr8:64037690-64037691	Enhancers	n/a	n/a	Overlapped CNVs	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:64037000-64037400	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr8:64037000-64037600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr8:64037000-64037800	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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