Variant report

Variant	nsv983497
Chromosome Location	chr12:29696128-29702801
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 237 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:237 , 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	rs368887611	chr12:29696128-29696129	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs527790171	chr12:29696138-29696139	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs12423770	chr12:29696156-29696157	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs573277626	chr12:29696164-29696165	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs12426386	chr12:29696171-29696172	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs531711368	chr12:29696192-29696193	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs151098512	chr12:29696196-29696197	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs79334411	chr12:29696223-29696224	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539282507	chr12:29696224-29696225	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554344106	chr12:29696250-29696251	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs73069592	chr12:29696256-29696257	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184515967	chr12:29696275-29696276	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs372202586	chr12:29696309-29696310	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs299457	chr12:29696329-29696330	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs557237967	chr12:29696339-29696340	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs34468972	chr12:29696344-29696345	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs12426420	chr12:29696373-29696374	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs78886105	chr12:29696406-29696407	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs577926951	chr12:29696407-29696408	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs148982068	chr12:29696449-29696450	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs536636065	chr12:29696484-29696485	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs558464283	chr12:29696493-29696494	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs139857598	chr12:29696507-29696508	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs57816450	chr12:29696513-29696514	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs559512034	chr12:29696546-29696547	Weak transcription Flanking Active TSS Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs375447172	chr12:29696620-29696621	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564189584	chr12:29696652-29696653	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs561206156	chr12:29696672-29696673	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531778553	chr12:29696709-29696710	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs60025447	chr12:29696789-29696790	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs565229334	chr12:29696855-29696856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532862155	chr12:29696861-29696862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs547739214	chr12:29696865-29696866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201167148	chr12:29696882-29696883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10771549	chr12:29696884-29696885	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs149817256	chr12:29696943-29696944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs548298592	chr12:29696959-29696960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs558187115	chr12:29697037-29697038	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368181438	chr12:29697038-29697039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs199589598	chr12:29697045-29697046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569403265	chr12:29697076-29697077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs299458	chr12:29697078-29697079	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34384320	chr12:29697092-29697093	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs565199526	chr12:29697146-29697147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs11316901	chr12:29697176-29697177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532323480	chr12:29697187-29697188	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs299459	chr12:29697218-29697219	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs552968165	chr12:29697227-29697228	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11611194	chr12:29697230-29697231	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs112327142	chr12:29697240-29697241	Enhancers Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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 myeloid leukemia	21251322	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
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
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:219 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29650400-29699000	Weak transcription	Right Ventricle	heart
2	chr12:29665400-29725400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:29668800-29706000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr12:29668800-29716600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:29670600-29697400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:29670600-29699000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr12:29671000-29697200	Weak transcription	Spleen	Spleen
8	chr12:29671600-29697200	Weak transcription	Left Ventricle	heart
9	chr12:29673600-29708800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:29682200-29697400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:29688200-29699000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:29688200-29705400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:29689400-29700000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:29690800-29696600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:29691000-29705800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:29691200-29698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:29691200-29709200	Weak transcription	HMEC	breast
18	chr12:29693000-29705600	Weak transcription	Hela-S3	cervix
19	chr12:29695400-29696400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:29695400-29697400	Enhancers	Fetal Stomach	stomach
21	chr12:29695600-29696200	Enhancers	NHLF	lung
22	chr12:29695600-29697000	Enhancers	Fetal Brain Male	brain
23	chr12:29695800-29696200	Enhancers	Fetal Lung	lung
24	chr12:29695800-29696200	Enhancers	Stomach Smooth Muscle	stomach
25	chr12:29695800-29696400	Active TSS	Aorta	Aorta
26	chr12:29695800-29696400	Active TSS	Ovary	ovary
27	chr12:29695800-29696600	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr12:29695800-29696800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:29695800-29696800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:29695800-29697200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr12:29695800-29697200	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:29695800-29698000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:29695800-29699000	Weak transcription	Psoas Muscle	Psoas
34	chr12:29696000-29696200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr12:29696000-29696200	Enhancers	Osteobl	bone
36	chr12:29696000-29696600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:29696000-29696600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:29696000-29696600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr12:29696000-29696600	Active TSS	Right Atrium	heart
40	chr12:29696000-29696800	Enhancers	HSMM	muscle
41	chr12:29696200-29696600	Flanking Active TSS	Fetal Lung	lung
42	chr12:29696200-29696600	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:29696200-29696600	Active TSS	NHDF-Ad	bronchial
44	chr12:29696200-29696600	Flanking Active TSS	NHLF	lung
45	chr12:29696200-29696600	Active TSS	Osteobl	bone
46	chr12:29696400-29696600	Enhancers	HSMMtube	muscle
47	chr12:29696400-29697200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr12:29696400-29698800	Weak transcription	Ovary	ovary
49	chr12:29696400-29706000	Weak transcription	Aorta	Aorta
50	chr12:29696600-29696800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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