Variant report

Variant	rs17415202
Chromosome Location	chr3:140250247-140250248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10513115	0.81[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12629444	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12629920	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12630402	0.81[ASN][1000 genomes]
rs12630595	0.81[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12632435	0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs12632522	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12633853	0.84[ASN][1000 genomes]
rs12634135	0.81[ASN][1000 genomes]
rs12634859	0.84[TSI][hapmap]
rs12637306	0.81[ASN][1000 genomes]
rs12637548	0.81[ASN][1000 genomes]
rs12638211	0.90[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12639333	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12639367	0.81[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12639512	0.81[ASN][1000 genomes]
rs12639527	0.81[ASN][1000 genomes]
rs12639548	0.81[ASN][1000 genomes]
rs2081804	0.85[ASN][1000 genomes]
rs28855402	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28896542	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55745214	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55905797	0.81[ASN][1000 genomes]
rs55955749	0.81[ASN][1000 genomes]
rs56055908	0.81[ASN][1000 genomes]
rs56144656	0.81[ASN][1000 genomes]
rs56162844	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56167447	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56178346	0.81[ASN][1000 genomes]
rs56205320	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59359471	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73231213	0.81[ASN][1000 genomes]
rs73231215	0.81[ASN][1000 genomes]
rs73231216	0.81[ASN][1000 genomes]
rs73231219	0.81[ASN][1000 genomes]
rs73231221	0.81[ASN][1000 genomes]
rs73231225	0.81[ASN][1000 genomes]
rs73231228	0.85[ASN][1000 genomes]
rs73231230	0.91[ASN][1000 genomes]
rs73231231	0.91[ASN][1000 genomes]
rs73231241	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73231242	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73231244	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73231248	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73231252	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7614244	0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7618181	0.81[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv591863	chr3:140126067-140274442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	esv2753648	chr3:140247073-140250708	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17415202	DBR1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140245600-140251200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:140245800-140251000	Enhancers	HMEC	breast
3	chr3:140247200-140250800	Enhancers	NHEK	skin
4	chr3:140248400-140251200	Weak transcription	Adipose Nuclei	Adipose
5	chr3:140248400-140254200	Weak transcription	Psoas Muscle	Psoas
6	chr3:140249400-140250400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:140249600-140250800	Enhancers	HSMMtube	muscle
8	chr3:140249800-140250600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr3:140250000-140251800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:140250000-140253000	Weak transcription	Ovary	ovary
11	chr3:140250000-140260400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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