Variant report

Variant	rs34253073
Chromosome Location	chr12:25994135-25994136
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10842632	0.96[ASN][1000 genomes]
rs11048327	0.96[ASN][1000 genomes]
rs11048332	0.94[ASN][1000 genomes]
rs11048333	0.91[ASN][1000 genomes]
rs11048334	0.92[ASN][1000 genomes]
rs11048335	0.86[ASN][1000 genomes]
rs12422269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12427059	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12812530	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs12816906	0.94[ASN][1000 genomes]
rs12817333	0.93[ASN][1000 genomes]
rs12824703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12831978	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2342372	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34704732	0.94[EUR][1000 genomes]
rs34810288	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34878109	0.94[ASN][1000 genomes]
rs35008815	1.00[AFR][1000 genomes]
rs35070061	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35642650	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35972516	0.89[EUR][1000 genomes]
rs66485863	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs67678522	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73084200	0.81[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs73086129	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73086133	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73088119	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:25981800-25996800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:25988800-25997800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:25991400-25996200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:25991400-25996400	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:25992200-25994200	Enhancers	HUVEC	blood vessel
6	chr12:25992200-25994400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr12:25992600-25994200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr12:25992600-25994600	Enhancers	NH-A	brain
9	chr12:25993000-25994200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:25993400-25994400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:25993400-25996000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:25993600-25994200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr12:25993800-25994200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:25993800-25994200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:25993800-25994200	Enhancers	NHDF-Ad	bronchial
16	chr12:25993800-25994400	Enhancers	NHLF	lung
17	chr12:25993800-25994600	Flanking Active TSS	Osteobl	bone
18	chr12:25993800-25994800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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