Variant report

Variant	rs506791
Chromosome Location	chr3:146191013-146191014
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10935631	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs10935632	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs12054453	0.88[ASN][1000 genomes]
rs12107218	0.88[ASN][1000 genomes]
rs12487546	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs12487572	0.90[ASN][1000 genomes]
rs12494007	1.00[CHB][hapmap]
rs12633694	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs13068178	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs13088225	0.89[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs13090489	0.95[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1403640	0.87[ASN][1000 genomes]
rs1403641	0.95[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs1403642	0.95[CHB][hapmap];0.93[ASN][1000 genomes]
rs1403645	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs1523334	0.91[ASN][1000 genomes]
rs1523335	0.95[CHB][hapmap]
rs1523336	0.95[CHB][hapmap];0.83[JPT][hapmap];0.90[ASN][1000 genomes]
rs1608389	0.92[ASN][1000 genomes]
rs1608390	0.90[ASN][1000 genomes]
rs1608391	0.95[CHB][hapmap]
rs1608392	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs17351881	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs2091064	0.88[ASN][1000 genomes]
rs2222465	0.93[ASN][1000 genomes]
rs2222466	0.95[CHB][hapmap]
rs2868436	0.95[CHB][hapmap]
rs2868438	0.90[ASN][1000 genomes]
rs34696856	0.86[ASN][1000 genomes]
rs34740686	0.93[ASN][1000 genomes]
rs35082616	0.81[ASN][1000 genomes]
rs4234358	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs4282029	0.86[ASN][1000 genomes]
rs4334615	0.93[ASN][1000 genomes]
rs4355250	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4380387	0.94[CHB][hapmap]
rs4444684	0.95[CHB][hapmap]
rs4558726	0.88[ASN][1000 genomes]
rs4572737	0.95[CHB][hapmap];0.88[JPT][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4597678	0.93[ASN][1000 genomes]
rs4600794	0.95[CHB][hapmap];0.81[ASN][1000 genomes]
rs4681119	0.95[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap]
rs4681120	0.95[CHB][hapmap]
rs4681326	0.89[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs473517	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs509382	0.81[ASN][1000 genomes]
rs533756	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs535344	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544043	0.81[ASN][1000 genomes]
rs544979	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs570781	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs574318	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs577842	0.86[YRI][hapmap]
rs6766800	0.95[CHB][hapmap]
rs6767156	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs6798352	0.91[ASN][1000 genomes]
rs6801846	0.88[ASN][1000 genomes]
rs6801964	0.88[ASN][1000 genomes]
rs6806535	0.90[CHB][hapmap]
rs692749	0.81[ASN][1000 genomes]
rs7434147	0.87[ASN][1000 genomes]
rs7617214	0.95[CHB][hapmap];0.94[JPT][hapmap];0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7633474	0.87[ASN][1000 genomes]
rs7645939	0.95[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs7650546	0.89[ASN][1000 genomes]
rs7653701	0.90[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs940193	0.95[CHB][hapmap]
rs955611	0.95[CHB][hapmap]

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	nsv877618	chr3:146096182-146192324	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv877622	chr3:146131961-146219740	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3448053	chr3:146186791-146262066	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	esv3523751	chr3:146186838-146261806	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv3523753	chr3:146186838-146261806	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv2496437	chr3:146186902-146262961	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:146188800-146195200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:146190200-146192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:146190200-146192400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr3:146190200-146193000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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