Variant report

Variant	esv3333442
Chromosome Location	chr8:69932398-69934696
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:88 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373407791	chr8:69932416-69932417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565646829	chr8:69932438-69932439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10957458	chr8:69932448-69932449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371082044	chr8:69932465-69932466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528129522	chr8:69932470-69932471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs186127451	chr8:69932532-69932533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374038115	chr8:69932534-69932535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537645090	chr8:69932584-69932585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs377112135	chr8:69932599-69932600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs370218625	chr8:69932602-69932603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs199623239	chr8:69932647-69932648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10448031	chr8:69932649-69932650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs201612108	chr8:69932666-69932667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557230914	chr8:69932676-69932677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181281998	chr8:69932678-69932679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541485730	chr8:69932683-69932684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367672858	chr8:69932701-69932702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs376040023	chr8:69932704-69932705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs559688217	chr8:69932714-69932715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368429851	chr8:69932729-69932730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs185975964	chr8:69932735-69932736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190693409	chr8:69932754-69932755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200450868	chr8:69932767-69932768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375286782	chr8:69932837-69932838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572885526	chr8:69932838-69932839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369312538	chr8:69932866-69932867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201403365	chr8:69932917-69932918	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541848924	chr8:69932942-69932943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs374822681	chr8:69932963-69932964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368893397	chr8:69933001-69933002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554439645	chr8:69933006-69933007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574683846	chr8:69933019-69933020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532815229	chr8:69933060-69933061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183148349	chr8:69933076-69933077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563311967	chr8:69933081-69933082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs532352760	chr8:69933129-69933130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545901127	chr8:69933138-69933139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559520046	chr8:69933140-69933141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs528093285	chr8:69933141-69933142	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548251617	chr8:69933169-69933170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200237616	chr8:69933171-69933172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs377444526	chr8:69933175-69933176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369627024	chr8:69933180-69933181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367680677	chr8:69933200-69933201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373497878	chr8:69933210-69933211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551276443	chr8:69933243-69933244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs376737369	chr8:69933416-69933417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs548617004	chr8:69933417-69933418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570921217	chr8:69933419-69933420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10094648	chr8:69933582-69933583	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:98)

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
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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
head and neck squamous cell carcinoma	16715129	CNVD
Prostate cancer	16461572	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69930200-69940800	Weak transcription	HSMM	muscle
2	chr8:69930600-69938000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr8:69930800-69942800	Weak transcription	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links