Variant report

Variant	nsv528752
Chromosome Location	chr2:183467216-183471260
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	chr2:183462276..183465034-chr2:183470042..183471619,2	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13398082	chr2:183467216-183467217	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs182585492	chr2:183467222-183467223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139400469	chr2:183467225-183467226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79317800	chr2:183467240-183467241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551153687	chr2:183467248-183467249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146533123	chr2:183467257-183467258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530695905	chr2:183467277-183467278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576647881	chr2:183467279-183467280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141309357	chr2:183467294-183467295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374749963	chr2:183467300-183467301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs13423751	chr2:183467330-183467331	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs535887861	chr2:183467343-183467344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs10754995	chr2:183467354-183467355	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs566452059	chr2:183467372-183467373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs187229073	chr2:183467400-183467401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs375366841	chr2:183467402-183467403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10497608	chr2:183467456-183467457	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs374268579	chr2:183467463-183467464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558380175	chr2:183467476-183467477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10497609	chr2:183467512-183467513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs544112520	chr2:183467562-183467563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13426633	chr2:183467649-183467650	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs573931615	chr2:183467655-183467656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542665294	chr2:183467690-183467691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13389338	chr2:183467693-183467694	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs145204722	chr2:183467708-183467709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs67187679	chr2:183467709-183467710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72191259	chr2:183467719-183467720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs370532700	chr2:183467720-183467721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56139311	chr2:183467722-183467723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs77354880	chr2:183467723-183467724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs190507901	chr2:183467778-183467779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375222911	chr2:183467817-183467818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545128093	chr2:183467826-183467827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184036041	chr2:183467845-183467846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188936274	chr2:183467864-183467865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530636286	chr2:183467866-183467867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12693317	chr2:183467875-183467876	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs10497610	chr2:183467888-183467889	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs13389590	chr2:183467940-183467941	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs546266783	chr2:183467956-183467957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs66784040	chr2:183467965-183467966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566518155	chr2:183467966-183467967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528031765	chr2:183468007-183468008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148987626	chr2:183468017-183468018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12693318	chr2:183468018-183468019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs537645482	chr2:183468046-183468047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373531304	chr2:183468068-183468069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567909501	chr2:183468117-183468118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143760768	chr2:183468134-183468135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183458600-183470200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:183459600-183493800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:183464000-183473000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:183469800-183470200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:183470000-183470200	Enhancers	NHLF	lung
6	chr2:183470200-183480400	Weak transcription	NHLF	lung

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