Variant report

Variant	nsv518101
Chromosome Location	chr3:161102097-161102861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:160344731..160346992-chr3:161101711..161103995,2	MCF-7	breast:
2	chr3:161097507..161100487-chr3:161101328..161104049,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs393076	chr3:161102097-161102098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs144330589	chr3:161102101-161102102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572783142	chr3:161102106-161102107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs420081	chr3:161102127-161102128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs539014266	chr3:161102135-161102136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs560209990	chr3:161102162-161102163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs148751769	chr3:161102181-161102182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs78208124	chr3:161102201-161102202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs575809924	chr3:161102209-161102210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562594449	chr3:161102227-161102228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs543247166	chr3:161102242-161102243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs59193340	chr3:161102287-161102288	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs142344717	chr3:161102289-161102290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs190539501	chr3:161102314-161102315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs460957	chr3:161102315-161102316	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs547265661	chr3:161102320-161102321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374832076	chr3:161102358-161102359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs567355446	chr3:161102380-161102381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367738400	chr3:161102397-161102398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536638006	chr3:161102423-161102424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556426011	chr3:161102431-161102432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183114702	chr3:161102472-161102473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs2061804	chr3:161102474-161102475	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs532124224	chr3:161102485-161102486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs455386	chr3:161102495-161102496	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs572651029	chr3:161102537-161102538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs541776236	chr3:161102544-161102545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111243945	chr3:161102560-161102561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573721469	chr3:161102579-161102580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs530735817	chr3:161102589-161102590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs147888442	chr3:161102592-161102593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186355524	chr3:161102632-161102633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs463890	chr3:161102633-161102634	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs74427769	chr3:161102639-161102640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs564764045	chr3:161102667-161102668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527466000	chr3:161102702-161102703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs16832203	chr3:161102719-161102720	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs116460610	chr3:161102747-161102748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536108252	chr3:161102752-161102753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs201369918	chr3:161102784-161102785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs58892449	chr3:161102797-161102798	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs139872969	chr3:161102811-161102812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs458175	chr3:161102851-161102852	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs459679	chr3:161102861-161102862	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	21785460	CNVD
Bladder cancer	21909424	CNVD
Myelofibrosis	22110671	CNVD
Sudden cardiac death	19188705	CNVD
Mantle cell lymphoma	19029149	CNVD
Malformation	19546859	CNVD
Schizophrenia	19546859	CNVD
Breast cancer	17133270	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:161091400-161102800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr3:161102800-161106200	Enhancers	Pancreatic Islets	Pancreatic Islet

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