Variant report

Variant	nsv933063
Chromosome Location	chr2:169801486-169814519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:169814051..169816137-chr2:169816733..169819588,2	MCF-7	breast:
2	chr2:169804921..169805756-chr2:170253961..170254734,2	MCF-7	breast:
3	chr2:169798515..169802093-chr2:169802233..169805225,4	K562	blood:
4	chr2:169792537..169795729-chr2:169800668..169803473,3	K562	blood:
5	chr2:169630102..169630887-chr2:169804877..169805660,3	MCF-7	breast:
6	chr2:169798515..169802093-chr2:169802233..169805225,4	K562	blood:

Extended variants
information (count: 497 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:497 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs853789	chr2:169801488-169801489	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs201867002	chr2:169801501-169801502	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369749814	chr2:169801503-169801504	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376307276	chr2:169801504-169801505	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150268006	chr2:169801517-169801518	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs183449403	chr2:169801592-169801593	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs79777432	chr2:169801593-169801594	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544906774	chr2:169801609-169801610	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs860510	chr2:169801628-169801629	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs578255954	chr2:169801654-169801655	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540590271	chr2:169801666-169801667	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560297333	chr2:169801718-169801719	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs73018705	chr2:169801726-169801727	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs139030039	chr2:169801751-169801752	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186296914	chr2:169801786-169801787	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs191093131	chr2:169801834-169801835	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551239930	chr2:169801890-169801891	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571179695	chr2:169801897-169801898	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs533859477	chr2:169801902-169801903	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs853788	chr2:169801905-169801906	Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs372868418	chr2:169801906-169801907	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536336866	chr2:169801922-169801923	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs377221115	chr2:169801936-169801937	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs35051200	chr2:169801965-169801966	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556330556	chr2:169801987-169801988	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs575886587	chr2:169801998-169801999	Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538416034	chr2:169802064-169802065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs558401018	chr2:169802088-169802089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368292601	chr2:169802102-169802103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs569078285	chr2:169802113-169802114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182114053	chr2:169802193-169802194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573988578	chr2:169802197-169802198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs62171003	chr2:169802210-169802211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386652543	chr2:169802241-169802242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs853787	chr2:169802252-169802253	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs531712232	chr2:169802256-169802257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187773063	chr2:169802258-169802259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192344234	chr2:169802263-169802264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs853786	chr2:169802310-169802311	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs3770580	chr2:169802323-169802324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs862662	chr2:169802329-169802330	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs556484550	chr2:169802361-169802362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576524427	chr2:169802405-169802406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574034668	chr2:169802470-169802471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183211663	chr2:169802496-169802497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs188853999	chr2:169802526-169802527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375942286	chr2:169802546-169802547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569735288	chr2:169802586-169802587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs853785	chr2:169802594-169802595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs192855035	chr2:169802658-169802659	Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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	22495311	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
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Developmental delay	21147756	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
Breast cancer	22522925	CNVD
Sudden cardiac death	19188705	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:169788200-169802600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:169801000-169802000	Genic enhancers	Liver	Liver
3	chr2:169802000-169802600	Weak transcription	Liver	Liver
4	chr2:169802600-169803600	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr2:169802600-169818000	Strong transcription	Liver	Liver
6	chr2:169804200-169804800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr2:169804200-169805200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:169804600-169805000	Enhancers	HMEC	breast
9	chr2:169804600-169805200	Active TSS	Aorta	Aorta
10	chr2:169808400-169812200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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