Variant report

Variant	esv3480489
Chromosome Location	chr8:65225458-65227875
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191809928	chr8:65225534-65225535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs376460342	chr8:65225547-65225548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183581937	chr8:65225552-65225553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147558322	chr8:65225647-65225648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573023894	chr8:65225734-65225735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs202065427	chr8:65225753-65225754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540040019	chr8:65225775-65225776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546064690	chr8:65225789-65225790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117023266	chr8:65225799-65225800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574590971	chr8:65225834-65225835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541877599	chr8:65225851-65225852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188306381	chr8:65225859-65225860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559897749	chr8:65225875-65225876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs79611505	chr8:65225876-65225877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111910030	chr8:65225900-65225901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs139478037	chr8:65225905-65225906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564607153	chr8:65225921-65225922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528721982	chr8:65225933-65225934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181858701	chr8:65225947-65225948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1595482	chr8:65225954-65225955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs184712179	chr8:65225979-65225980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550660784	chr8:65225983-65225984	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190069664	chr8:65225993-65225994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566699354	chr8:65226006-65226007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs368313696	chr8:65226048-65226049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181788268	chr8:65226069-65226070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs186398865	chr8:65226093-65226094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534041693	chr8:65226164-65226165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372579114	chr8:65226188-65226189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189479525	chr8:65226233-65226234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs149849034	chr8:65226257-65226258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11990923	chr8:65226277-65226278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs575626156	chr8:65226317-65226318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs61287752	chr8:65226339-65226340	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs562595784	chr8:65226372-65226373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78042753	chr8:65226449-65226450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200257698	chr8:65226457-65226458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs145844949	chr8:65226484-65226485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149007454	chr8:65226572-65226573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs59645733	chr8:65226595-65226596	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs181382440	chr8:65226618-65226619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568845147	chr8:65226630-65226631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs1438228	chr8:65226640-65226641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs145766347	chr8:65226698-65226699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs146610634	chr8:65226700-65226701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533846942	chr8:65226783-65226784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs527359270	chr8:65226790-65226791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555210634	chr8:65226853-65226854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547487918	chr8:65226854-65226855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10099867	chr8:65226862-65226863	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:65213600-65235400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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