Variant report

Variant	rs1982597
Chromosome Location	chr12:74798743-74798744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10506691	1.00[EUR][1000 genomes]
rs11179988	1.00[EUR][1000 genomes]
rs11179989	1.00[EUR][1000 genomes]
rs12299538	1.00[EUR][1000 genomes]
rs12300000	1.00[EUR][1000 genomes]
rs12302448	1.00[EUR][1000 genomes]
rs12304380	1.00[EUR][1000 genomes]
rs12307332	1.00[EUR][1000 genomes]
rs12309066	1.00[EUR][1000 genomes]
rs12309372	1.00[EUR][1000 genomes]
rs12317803	1.00[EUR][1000 genomes]
rs12318521	1.00[EUR][1000 genomes]
rs12320395	1.00[EUR][1000 genomes]
rs12322704	1.00[EUR][1000 genomes]
rs1493814	1.00[EUR][1000 genomes]
rs1493815	1.00[EUR][1000 genomes]
rs1493817	1.00[EUR][1000 genomes]
rs1522126	1.00[EUR][1000 genomes]
rs17113226	1.00[EUR][1000 genomes]
rs17113816	1.00[EUR][1000 genomes]
rs17113895	1.00[EUR][1000 genomes]
rs2641504	1.00[EUR][1000 genomes]
rs2641506	1.00[EUR][1000 genomes]
rs59771966	1.00[EUR][1000 genomes]
rs59917367	1.00[EUR][1000 genomes]
rs60316938	1.00[EUR][1000 genomes]
rs7133693	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7315551	1.00[EUR][1000 genomes]
rs73335503	1.00[EUR][1000 genomes]
rs73350030	1.00[EUR][1000 genomes]
rs73350835	1.00[EUR][1000 genomes]
rs73350842	1.00[EUR][1000 genomes]
rs73350868	1.00[EUR][1000 genomes]
rs73350901	1.00[EUR][1000 genomes]
rs73351333	1.00[EUR][1000 genomes]
rs73351746	1.00[EUR][1000 genomes]
rs73352806	1.00[EUR][1000 genomes]
rs73352828	1.00[EUR][1000 genomes]
rs74105463	1.00[EUR][1000 genomes]
rs7955373	1.00[EUR][1000 genomes]
rs7961059	1.00[EUR][1000 genomes]
rs7971410	1.00[EUR][1000 genomes]
rs7973162	1.00[EUR][1000 genomes]
rs980785	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9919749	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039468	chr12:74080586-75000246	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv428595	chr12:74679884-74858160	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv1052996	chr12:74710909-74891621	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv541540	chr12:74710909-74891621	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv559413	chr12:74754590-74924819	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv983440	chr12:74798518-74823611	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:74796600-74807200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:74796600-74807400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr12:74796800-74802400	Weak transcription	A549	lung
4	chr12:74798000-74798800	Enhancers	Brain Hippocampus Middle	brain
5	chr12:74798200-74806200	Weak transcription	Brain Substantia Nigra	brain
6	chr12:74798400-74799600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:74798400-74799800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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