Variant report

Variant	rs6747855
Chromosome Location	chr2:182904822-182904823
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1196155	0.94[CEU][hapmap];0.80[EUR][1000 genomes]
rs1196157	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs1196160	0.94[CEU][hapmap];0.82[EUR][1000 genomes]
rs1196167	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs1196179	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1196183	0.82[EUR][1000 genomes]
rs1196185	0.89[CEU][hapmap]
rs12693291	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.97[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693292	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13003589	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13017711	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1400010	0.83[EUR][1000 genomes]
rs16822401	0.94[CEU][hapmap]
rs16822409	0.90[CEU][hapmap]
rs1913896	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs2701664	0.94[CEU][hapmap];0.83[EUR][1000 genomes]
rs2701665	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs6433953	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6732434	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7560061	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7589699	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv834479	chr2:182738483-182905444	Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6747855	PPP1R1C	cis	Thyroid	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182903200-182928400	Weak transcription	Left Ventricle	heart
2	chr2:182904000-182912000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:182904200-182905000	Enhancers	Right Ventricle	heart
4	chr2:182904200-182906600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:182904200-182906600	Weak transcription	NHLF	lung
6	chr2:182904200-182907000	Weak transcription	Osteobl	bone
7	chr2:182904200-182908200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:182904200-182908400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:182904200-182908400	Weak transcription	HMEC	breast
10	chr2:182904200-182908400	Weak transcription	NHEK	skin
11	chr2:182904400-182905800	Weak transcription	Thymus	Thymus

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