Variant report

Variant	nsv968550
Chromosome Location	chr8:78645666-78650478
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564169072	chr8:78645703-78645704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531365122	chr8:78645743-78645744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549732351	chr8:78645746-78645747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs1519347	chr8:78645758-78645759	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs529206610	chr8:78645764-78645765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs375085876	chr8:78645831-78645832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541466223	chr8:78645833-78645834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547328318	chr8:78645864-78645865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs182161410	chr8:78645874-78645875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539238755	chr8:78645896-78645897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558671808	chr8:78645922-78645923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368688520	chr8:78645927-78645928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115306297	chr8:78645962-78645963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200460785	chr8:78645967-78645968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201016119	chr8:78645971-78645972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs76571363	chr8:78645976-78645977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs574696304	chr8:78645991-78645992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530000185	chr8:78646018-78646019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11997784	chr8:78646058-78646059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs554499769	chr8:78646059-78646060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560826862	chr8:78646112-78646113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs190084145	chr8:78646130-78646131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370975369	chr8:78646183-78646184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549700521	chr8:78646191-78646192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs553754709	chr8:78646199-78646200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571378801	chr8:78646207-78646208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181535579	chr8:78646209-78646210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555694501	chr8:78646211-78646212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531449312	chr8:78646214-78646215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs543121203	chr8:78646245-78646246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs145403273	chr8:78646269-78646270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528841653	chr8:78646271-78646272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573881176	chr8:78646326-78646327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs565633062	chr8:78646343-78646344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs151311960	chr8:78646438-78646439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185840855	chr8:78646439-78646440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144992726	chr8:78646446-78646447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532987573	chr8:78646471-78646472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551178761	chr8:78646477-78646478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375175401	chr8:78646484-78646485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190225614	chr8:78646495-78646496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556342187	chr8:78646536-78646537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs568485047	chr8:78646539-78646540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182496609	chr8:78646545-78646546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554534800	chr8:78646569-78646570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572762717	chr8:78646654-78646655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547487780	chr8:78646657-78646658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558404745	chr8:78646670-78646671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532693964	chr8:78646674-78646675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs576511104	chr8:78646693-78646694	Weak transcription	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
primary effusion lymphomas	17116491	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
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
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
Sezary syndrome	18413736	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
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78644200-78647800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr8:78647000-78647600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:78647600-78647800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:78647600-78648400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:78647800-78648000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:78647800-78648800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:78648000-78648200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr8:78648200-78649000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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