Variant report

Variant	nsv522314
Chromosome Location	chr12:44471709-44487061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 525 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:525 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2657575	chr12:44471709-44471710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs552513580	chr12:44471722-44471723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2657574	chr12:44471723-44471724	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs74714966	chr12:44471739-44471740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556225898	chr12:44471749-44471750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs183160431	chr12:44471762-44471763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574560183	chr12:44471785-44471786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577909061	chr12:44471788-44471789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563526763	chr12:44471806-44471807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541845184	chr12:44471810-44471811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs373575465	chr12:44471817-44471818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs189328919	chr12:44471819-44471820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs560240629	chr12:44471827-44471828	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs527998330	chr12:44471883-44471884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546171184	chr12:44471891-44471892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs564749231	chr12:44471925-44471926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs2131196	chr12:44471978-44471979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77544607	chr12:44472001-44472002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147439686	chr12:44472060-44472061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2131197	chr12:44472076-44472077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs575330907	chr12:44472110-44472111	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187619254	chr12:44472198-44472199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528949438	chr12:44472222-44472223	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs547375610	chr12:44472302-44472303	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs190542181	chr12:44472379-44472380	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs1688727	chr12:44472386-44472387	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs148475689	chr12:44472391-44472392	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs142662416	chr12:44472397-44472398	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs188453874	chr12:44472408-44472409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555116838	chr12:44472419-44472420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376413870	chr12:44472420-44472421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557893383	chr12:44472427-44472428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs530900685	chr12:44472450-44472451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1701092	chr12:44472451-44472452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7956717	chr12:44472455-44472456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554180229	chr12:44472583-44472584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572347913	chr12:44472593-44472594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192688492	chr12:44472598-44472599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs111562870	chr12:44472607-44472608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs540594759	chr12:44472609-44472610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs372236294	chr12:44472626-44472627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564639555	chr12:44472628-44472629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs576780633	chr12:44472639-44472640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs544032256	chr12:44472658-44472659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562223892	chr12:44472672-44472673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184630995	chr12:44472677-44472678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs547170197	chr12:44472678-44472679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182036783	chr12:44472722-44472723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187536951	chr12:44472734-44472735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191323224	chr12:44472741-44472742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	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
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44458400-44482200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44464200-44473600	Weak transcription	Fetal Intestine Small	intestine
3	chr12:44467600-44482600	Weak transcription	Left Ventricle	heart
4	chr12:44469400-44495600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:44471000-44472200	Weak transcription	Psoas Muscle	Psoas
6	chr12:44471200-44472200	Weak transcription	Ovary	ovary
7	chr12:44471200-44482400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:44471400-44482400	Weak transcription	Aorta	Aorta
9	chr12:44471600-44472200	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr12:44472000-44472400	Enhancers	A549	lung
11	chr12:44472200-44472400	Enhancers	Gastric	stomach
12	chr12:44472200-44472400	Enhancers	Ovary	ovary
13	chr12:44472200-44472400	ZNF genes & repeats	Pancreas	Pancrea
14	chr12:44472200-44472400	Enhancers	Psoas Muscle	Psoas
15	chr12:44472400-44474400	Weak transcription	Pancreas	Pancrea
16	chr12:44473600-44473800	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr12:44473800-44474600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:44482200-44482600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:44482200-44483000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:44482400-44482600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr12:44482400-44482600	Enhancers	Aorta	Aorta
22	chr12:44482400-44482800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:44482400-44482800	Enhancers	Psoas Muscle	Psoas
24	chr12:44482400-44482800	Enhancers	NHEK	skin
25	chr12:44482400-44483000	Enhancers	Fetal Heart	heart
26	chr12:44482400-44483000	Enhancers	HMEC	breast
27	chr12:44482600-44482800	Enhancers	Left Ventricle	heart
28	chr12:44482800-44501000	Weak transcription	Left Ventricle	heart
29	chr12:44483000-44485800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:44484600-44488800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:44485400-44486200	Enhancers	Fetal Stomach	stomach
32	chr12:44485800-44486400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:44486200-44486800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:44486400-44486800	Enhancers	Rectal Smooth Muscle	rectum
35	chr12:44486400-44491800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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