Variant report

Variant	nsv511399
Chromosome Location	chr8:60132194-60146239
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:60131223..60133472-chr8:60135461..60137451,2	K562	blood:
2	chr8:60126464..60129437-chr8:60135528..60137372,2	MCF-7	breast:
3	chr8:60131223..60133472-chr8:60135461..60137451,2	K562	blood:

Extended variants
information (count: 384 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:384 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10113215	chr8:60132194-60132195	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs144313680	chr8:60132197-60132198	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535601570	chr8:60132223-60132224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs147499981	chr8:60132298-60132299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs556432355	chr8:60132397-60132398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs572171055	chr8:60132423-60132424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs371985800	chr8:60132503-60132504	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs576282485	chr8:60132512-60132513	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs116450117	chr8:60132638-60132639	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs140104124	chr8:60132688-60132689	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs201667510	chr8:60132722-60132723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs143058745	chr8:60132728-60132729	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564096204	chr8:60132746-60132747	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs3110128	chr8:60132747-60132748	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs150056758	chr8:60132761-60132762	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs3110129	chr8:60132829-60132830	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs563385247	chr8:60132837-60132838	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs529063919	chr8:60132845-60132846	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534375536	chr8:60132871-60132872	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs145427419	chr8:60132909-60132910	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs201063379	chr8:60132954-60132955	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs559414300	chr8:60133017-60133018	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs528165673	chr8:60133028-60133029	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs184845249	chr8:60133034-60133035	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs571253847	chr8:60133053-60133054	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs540217605	chr8:60133084-60133085	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs540180757	chr8:60133106-60133107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs189572485	chr8:60133128-60133129	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs140792383	chr8:60133143-60133144	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs375844503	chr8:60133164-60133165	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs369407113	chr8:60133170-60133171	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs549183719	chr8:60133213-60133214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75186904	chr8:60133219-60133220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs570187328	chr8:60133223-60133224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567866984	chr8:60133224-60133225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35614009	chr8:60133225-60133226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376799424	chr8:60133279-60133280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs536060409	chr8:60133319-60133320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555650125	chr8:60133370-60133371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572208076	chr8:60133417-60133418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534756783	chr8:60133418-60133419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9643508	chr8:60133443-60133444	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs577613839	chr8:60133453-60133454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543382529	chr8:60133454-60133455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577428469	chr8:60133510-60133511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79859372	chr8:60133569-60133570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368638549	chr8:60133637-60133638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199803900	chr8:60133673-60133674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534943030	chr8:60133697-60133698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs573819732	chr8:60133769-60133770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:94)

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
Salivary gland tumor	18059337	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
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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60131400-60132200	Enhancers	Dnd41	blood
2	chr8:60132200-60133200	ZNF genes & repeats	Dnd41	blood
3	chr8:60132200-60142400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:60135400-60135600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
5	chr8:60135400-60136600	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr8:60135600-60135800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
7	chr8:60135800-60136000	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
8	chr8:60136000-60136200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
9	chr8:60136200-60136400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
10	chr8:60139600-60140200	Enhancers	HUVEC	blood vessel
11	chr8:60146200-60146600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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