Variant report

Variant	nsv557912
Chromosome Location	chr12:29197747-29217245
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:29199374..29199982-chr3:64096132..64097095,2	MCF-7	breast:
2	chr12:29197257..29200417-chr12:29204358..29207773,4	K562	blood:
3	chr12:29197257..29200417-chr12:29204358..29207773,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FAR2-1	chr12:29209092-29209554	XLOC_009696

Extended variants
information (count: 108 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:108 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10771468	chr12:29197747-29197748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555768144	chr12:29197763-29197764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567178238	chr12:29197772-29197773	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs10771469	chr12:29197813-29197814	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562703123	chr12:29197820-29197821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140392198	chr12:29197836-29197837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs538260587	chr12:29198031-29198032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs556569656	chr12:29198081-29198082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs12366697	chr12:29198110-29198111	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs559833349	chr12:29198161-29198162	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11050001	chr12:29198169-29198170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11050002	chr12:29198175-29198176	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs561025112	chr12:29198236-29198237	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs137982099	chr12:29198290-29198291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371829710	chr12:29198326-29198327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549815358	chr12:29198340-29198341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs56078711	chr12:29198361-29198362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs142059741	chr12:29198364-29198365	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551863810	chr12:29198488-29198489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs188004332	chr12:29198499-29198500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs192713528	chr12:29198517-29198518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565335691	chr12:29198518-29198519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535874690	chr12:29198519-29198520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555773628	chr12:29198546-29198547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573962117	chr12:29198637-29198638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369695009	chr12:29198654-29198655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs183769186	chr12:29198702-29198703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs556462357	chr12:29198709-29198710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2196484	chr12:29198716-29198717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs146325450	chr12:29198752-29198753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189269524	chr12:29198758-29198759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs559796246	chr12:29198778-29198779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs77959494	chr12:29198800-29198801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138292832	chr12:29198825-29198826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73061763	chr12:29198858-29198859	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550069481	chr12:29198916-29198917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149570769	chr12:29198951-29198952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs67760969	chr12:29198956-29198957	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs144227576	chr12:29198957-29198958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567932986	chr12:29203230-29203231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531934234	chr12:29203246-29203247	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs370666910	chr12:29203249-29203250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78669987	chr12:29203277-29203278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373525766	chr12:29203280-29203281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs568838089	chr12:29203291-29203292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149679119	chr12:29203310-29203311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs557571252	chr12:29203327-29203328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs572709559	chr12:29203333-29203334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs541119650	chr12:29203334-29203335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs186557410	chr12:29203360-29203361	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myxofibrosarcoma	16751306	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Acute myeloid leukemia	16864856	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21509527	CNVD
Autism	22102821	CNVD
Follicular lymphoma	18703704	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21364760	CNVD
Cancer	21129771	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17899364	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29194400-29198000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr12:29195400-29198600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:29195600-29198000	Enhancers	NHDF-Ad	bronchial
4	chr12:29196400-29198800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr12:29198600-29199000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:29203200-29204000	Enhancers	GM12878-XiMat	blood
7	chr12:29207800-29208400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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