Variant report

Variant	esv17457
Chromosome Location	chr8:85736528-85740278
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556981344	chr8:85736559-85736560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557858360	chr8:85736576-85736577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192557966	chr8:85736583-85736584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs184420525	chr8:85736747-85736748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190532315	chr8:85736794-85736795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs182237481	chr8:85736818-85736819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541630875	chr8:85736864-85736865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564402486	chr8:85736877-85736878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185811214	chr8:85736878-85736879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543733166	chr8:85736902-85736903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563338168	chr8:85736979-85736980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10110832	chr8:85736989-85736990	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549167725	chr8:85736990-85736991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559800850	chr8:85737003-85737004	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528246185	chr8:85737009-85737010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551618454	chr8:85737040-85737041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs11994605	chr8:85737046-85737047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537322250	chr8:85737048-85737049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs550943658	chr8:85737052-85737053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189113522	chr8:85737068-85737069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536257121	chr8:85737082-85737083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10097859	chr8:85737103-85737104	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs566576063	chr8:85737121-85737122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs181556049	chr8:85737155-85737156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367902381	chr8:85737175-85737176	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559686567	chr8:85737223-85737224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs574032644	chr8:85737236-85737237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs557906887	chr8:85737277-85737278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs10111170	chr8:85737300-85737301	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs548096723	chr8:85737363-85737364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs185298267	chr8:85737393-85737394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557240408	chr8:85737465-85737466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573904183	chr8:85737510-85737511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114931904	chr8:85737562-85737563	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191234927	chr8:85737571-85737572	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10108273	chr8:85737573-85737574	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs112863901	chr8:85737622-85737623	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549908960	chr8:85737645-85737646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182702769	chr8:85737670-85737671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs113082466	chr8:85737679-85737680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs113716312	chr8:85737700-85737701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550855989	chr8:85737715-85737716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs186064579	chr8:85737756-85737757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs529621607	chr8:85737765-85737766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs371012272	chr8:85737834-85737835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369213580	chr8:85737864-85737865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566370535	chr8:85737869-85737870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113073352	chr8:85737887-85737888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs558270889	chr8:85737912-85737913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373557942	chr8:85737957-85737958	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	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
Esophageal cancer	20955586	CNVD
Multiple myeloma	16461302	CNVD
abnormal development	18461090	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
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
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
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
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:85734800-85737800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:85737000-85737800	Enhancers	HMEC	breast
3	chr8:85737800-85738000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links