Variant report

Variant	rs74076684
Chromosome Location	chr12:29393353-29393354
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs56224606	0.92[AFR][1000 genomes]
rs57967706	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58244411	0.92[AFR][1000 genomes]
rs58552561	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59173481	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59368526	0.89[AFR][1000 genomes]
rs59442924	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60044892	0.89[AFR][1000 genomes]
rs60675725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60697326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61447708	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7342354	0.86[AFR][1000 genomes]
rs74076962	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74077152	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078141	0.85[AFR][1000 genomes]
rs74078380	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74078381	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532233	chr12:29009388-29496179	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv995123	chr12:29095272-29571558	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29379000-29393400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr12:29379600-29394600	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr12:29381800-29394600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr12:29381800-29394800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:29382200-29393400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:29388600-29394800	Weak transcription	NHEK	skin
7	chr12:29388800-29394600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:29390200-29394800	Enhancers	HUVEC	blood vessel
9	chr12:29390400-29394400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:29391600-29393400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:29391600-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:29391800-29393400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:29391800-29394600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:29391800-29400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:29392200-29394600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr12:29392400-29394000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:29392400-29394000	Weak transcription	NHDF-Ad	bronchial
18	chr12:29392400-29394200	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr12:29392400-29394200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr12:29392400-29394200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:29392400-29394400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr12:29392400-29394600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:29392400-29394600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:29392400-29394600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr12:29392400-29394600	Weak transcription	NH-A	brain
26	chr12:29392400-29395000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr12:29392400-29395400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:29392600-29394400	Weak transcription	Osteobl	bone
29	chr12:29392800-29396000	Enhancers	Placenta	Placenta
30	chr12:29393000-29394400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:29393200-29393400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr12:29393200-29393400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr12:29393200-29393400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr12:29393200-29393400	Enhancers	Fetal Thymus	thymus
35	chr12:29393200-29393400	Enhancers	Rectal Smooth Muscle	rectum
36	chr12:29393200-29393400	Flanking Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr12:29393200-29393600	Enhancers	Lung	lung
38	chr12:29393200-29394400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:29393200-29394600	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr12:29393200-29394600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:29393200-29395000	Enhancers	Primary hematopoietic stem cells	blood
42	chr12:29393200-29396000	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:29393200-29397000	Enhancers	Primary monocytes fromperipheralblood	blood

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