Variant report

Variant	nsv821788
Chromosome Location	chr2:172476049-172478198
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 46 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558273171	chr2:172476061-172476062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75177479	chr2:172476075-172476076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs543831880	chr2:172476090-172476091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2037158	chr2:172476111-172476112	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs2037159	chr2:172476132-172476133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546968788	chr2:172476133-172476134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540347476	chr2:172476135-172476136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs376487660	chr2:172476144-172476145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs75086232	chr2:172476155-172476156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2037160	chr2:172476160-172476161	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs76919689	chr2:172476207-172476208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs144304224	chr2:172476215-172476216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs533437030	chr2:172476243-172476244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs5836345	chr2:172476279-172476280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564525391	chr2:172476345-172476346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs2037161	chr2:172476392-172476393	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs569050450	chr2:172476396-172476397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2037162	chr2:172476419-172476420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568477309	chr2:172476436-172476437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2037163	chr2:172476458-172476459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs548117477	chr2:172476459-172476460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386652718	chr2:172476525-172476526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182931280	chr2:172476620-172476621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13025856	chr2:172476705-172476706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs2176150	chr2:172476749-172476750	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570175707	chr2:172476771-172476772	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148741522	chr2:172476772-172476773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563838303	chr2:172476812-172476813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77981950	chr2:172476835-172476836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187790628	chr2:172476887-172476888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539511572	chr2:172476999-172477000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs142191803	chr2:172477033-172477034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574421475	chr2:172477078-172477079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553211612	chr2:172477116-172477117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs146711862	chr2:172477140-172477141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191453070	chr2:172477146-172477147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572375128	chr2:172477152-172477153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545993479	chr2:172477172-172477173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs367643452	chr2:172477182-172477183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551608971	chr2:172477200-172477201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140415097	chr2:172477219-172477220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs1533417	chr2:172477248-172477249	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs561936347	chr2:172477285-172477286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535678974	chr2:172477298-172477299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529331010	chr2:172477330-172477331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547399355	chr2:172477383-172477384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs1969271	chr2:172477393-172477394	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs533459532	chr2:172477462-172477463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551541142	chr2:172477469-172477470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs34842120	chr2:172477506-172477507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172469000-172482600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:172473200-172477400	Weak transcription	HSMMtube	muscle
3	chr2:172477400-172477800	Enhancers	HSMMtube	muscle

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