Variant report

Variant	nsv964419
Chromosome Location	chr20:29529701-29531397
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:118 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537071242	chr20:29529726-29529727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531474762	chr20:29529739-29529740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs115721753	chr20:29529740-29529741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs141435728	chr20:29529756-29529757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs76537187	chr20:29529779-29529780	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146994689	chr20:29529781-29529782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs559277228	chr20:29529789-29529790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs1811868	chr20:29529825-29529826	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs545083763	chr20:29529833-29529834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs189778426	chr20:29529840-29529841	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182376015	chr20:29529851-29529852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148030367	chr20:29529853-29529854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571310162	chr20:29529862-29529863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs3072972	chr20:29529869-29529870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568625957	chr20:29529870-29529871	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs539134931	chr20:29529902-29529903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs560979778	chr20:29529903-29529904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6118986	chr20:29529915-29529916	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs141906191	chr20:29529919-29529920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187048207	chr20:29529941-29529942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs112800136	chr20:29529974-29529975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551436235	chr20:29529976-29529977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6118987	chr20:29529997-29529998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537583838	chr20:29530000-29530001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557065705	chr20:29530001-29530002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567696381	chr20:29530056-29530057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536110307	chr20:29530083-29530084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553241367	chr20:29530089-29530090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573039282	chr20:29530103-29530104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138729644	chr20:29530108-29530109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs374088022	chr20:29530128-29530129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575402439	chr20:29530133-29530134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192729429	chr20:29530135-29530136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs536627472	chr20:29530147-29530148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529704693	chr20:29530201-29530202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs61282699	chr20:29530210-29530211	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs183478218	chr20:29530214-29530215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188376022	chr20:29530215-29530216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551541367	chr20:29530218-29530219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs193198024	chr20:29530222-29530223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs530902984	chr20:29530241-29530242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551054621	chr20:29530250-29530251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117577183	chr20:29530268-29530269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536665404	chr20:29530271-29530272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553275320	chr20:29530274-29530275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566750524	chr20:29530290-29530291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532048403	chr20:29530327-29530328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs538976308	chr20:29530328-29530329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs558781690	chr20:29530332-29530333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575514079	chr20:29530341-29530342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21806811	CNVD
Melanoma	21693616	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	22860045	CNVD
Ovarian cancer	20844748	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
early-passage human iPS cells	21368824	CNVD
Lung cancer	18438408	CNVD
Gastric cancer	16891809	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Amyotrophic lateral sclerosis	20688871	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:29521000-29534000	Weak transcription	Gastric	stomach
2	chr20:29524800-29535000	Weak transcription	Pancreas	Pancrea
3	chr20:29525000-29535200	Weak transcription	Small Intestine	intestine
4	chr20:29525600-29531000	Weak transcription	Stomach Mucosa	stomach
5	chr20:29525600-29535200	Weak transcription	Right Atrium	heart
6	chr20:29529600-29530000	Enhancers	Duodenum Mucosa	Duodenum
7	chr20:29530000-29533400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr20:29531000-29532200	Enhancers	Stomach Mucosa	stomach

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