Variant report

Variant	nsv215311
Chromosome Location	chr2:178822646-178831927
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178825449..178829644-chr2:178831703..178836480,4	K562	blood:
2	chr2:178825449..178829644-chr2:178831703..178836480,4	K562	blood:
3	chr2:178819326..178822090-chr2:178825482..178828483,3	K562	blood:
4	chr2:178817015..178819167-chr2:178824979..178826962,2	K562	blood:
5	chr2:178823421..178826085-chr2:178834912..178837926,3	K562	blood:

Extended variants
information (count: 212 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:212 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs201537249	chr2:178822646-178822647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs199567863	chr2:178822647-178822648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188825733	chr2:178822651-178822652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs13415041	chr2:178822659-178822660	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs549201777	chr2:178822692-178822693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563898003	chr2:178822708-178822709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs569177994	chr2:178822709-178822710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549652110	chr2:178822726-178822727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs568070673	chr2:178822754-178822755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115875830	chr2:178822766-178822767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547536964	chr2:178822807-178822808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570589087	chr2:178822834-178822835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539501813	chr2:178822844-178822845	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375084961	chr2:178822869-178822870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576180222	chr2:178822870-178822871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs538169006	chr2:178822908-178822909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555210438	chr2:178822912-178822913	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs193108585	chr2:178822913-178822914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs17401951	chr2:178822935-178822936	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541057170	chr2:178822957-178822958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs564124993	chr2:178822964-178822965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs578066927	chr2:178822973-178822974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571550639	chr2:178823029-178823030	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs563735123	chr2:178823030-178823031	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10183014	chr2:178823033-178823034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529447171	chr2:178823052-178823053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183629882	chr2:178823097-178823098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10195518	chr2:178823131-178823132	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs528773438	chr2:178823145-178823146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547447685	chr2:178823222-178823223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143215077	chr2:178823233-178823234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188178472	chr2:178823242-178823243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74753765	chr2:178823262-178823263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs398080847	chr2:178823263-178823264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398090895	chr2:178823264-178823265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549799564	chr2:178823276-178823277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191896488	chr2:178823289-178823290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551820794	chr2:178823335-178823336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555124608	chr2:178823348-178823349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13402629	chr2:178823407-178823408	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs375011397	chr2:178823411-178823412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557777794	chr2:178823412-178823413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13402636	chr2:178823433-178823434	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs184237881	chr2:178823450-178823451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557391194	chr2:178823477-178823478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566838236	chr2:178823524-178823525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35862134	chr2:178823578-178823579	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs556416210	chr2:178823599-178823600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543271665	chr2:178823610-178823611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78062376	chr2:178823651-178823652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian cancer	21720365	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178822200-178823000	Enhancers	Ovary	ovary
2	chr2:178822600-178823200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr2:178823000-178828000	Weak transcription	Ovary	ovary
4	chr2:178828000-178828800	Enhancers	Ovary	ovary

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