Variant report

Variant	rs7973156
Chromosome Location	chr12:60679702-60679703
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:115)

rs_ID	r²[population]
rs1021887	1.00[ASW][hapmap];0.83[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs10747870	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10784028	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10784033	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10784046	0.88[EUR][1000 genomes]
rs10877398	0.93[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877399	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10877401	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877402	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10877403	0.81[CEU][hapmap];0.82[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.95[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10877406	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10877412	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10877413	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10877414	0.97[EUR][1000 genomes]
rs10877422	0.85[JPT][hapmap];0.84[EUR][1000 genomes]
rs11173338	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11173357	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11173365	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11173371	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11173387	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11173389	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173391	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173392	0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11173393	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11173395	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11173396	0.84[EUR][1000 genomes]
rs11173397	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11173398	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11173405	0.81[EUR][1000 genomes]
rs11173418	0.84[EUR][1000 genomes]
rs1125188	0.84[EUR][1000 genomes]
rs11561446	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11561447	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11836206	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12230599	0.94[EUR][1000 genomes]
rs12231943	0.86[EUR][1000 genomes]
rs12817959	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12830074	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1304313	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1319633	0.84[EUR][1000 genomes]
rs1354469	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1389255	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1389256	0.86[AMR][1000 genomes]
rs1493311	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1493318	0.86[AMR][1000 genomes]
rs1504444	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1504459	1.00[ASW][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.86[JPT][hapmap];0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs1504462	0.84[EUR][1000 genomes]
rs1504463	0.84[EUR][1000 genomes]
rs1504464	0.84[EUR][1000 genomes]
rs1566847	0.86[JPT][hapmap];0.83[EUR][1000 genomes]
rs1587821	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1604866	0.88[EUR][1000 genomes]
rs1875860	0.82[EUR][1000 genomes]
rs1910674	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1995515	1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2014074	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2102258	0.83[EUR][1000 genomes]
rs2134882	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2202365	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2221407	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2363600	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2655886	0.91[ASW][hapmap];0.82[CHD][hapmap];0.90[GIH][hapmap];0.85[JPT][hapmap];0.84[LWK][hapmap];0.89[TSI][hapmap]
rs35713358	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3847662	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3847663	0.88[CHD][hapmap];0.81[JPT][hapmap];0.86[MEX][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs3901470	0.84[EUR][1000 genomes]
rs3907482	0.85[AMR][1000 genomes]
rs3920119	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4093759	0.83[AMR][1000 genomes]
rs4254103	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4347425	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4366523	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4406858	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4583008	0.82[EUR][1000 genomes]
rs4758855	0.80[AMR][1000 genomes]
rs4758858	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56240683	0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs60691341	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61923155	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61923156	0.87[EUR][1000 genomes]
rs61923157	0.87[EUR][1000 genomes]
rs61925560	0.84[EUR][1000 genomes]
rs6581310	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7134663	0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7136435	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7136835	0.86[EUR][1000 genomes]
rs7136994	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7138626	0.82[ASN][1000 genomes]
rs7138854	0.92[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7295183	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7297548	0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298315	0.85[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7300532	0.86[AMR][1000 genomes]
rs7305978	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7306226	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7312225	0.82[EUR][1000 genomes]
rs7313364	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952971	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7953857	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7957295	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7960292	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7960303	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7960487	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7961221	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7961791	0.82[EUR][1000 genomes]
rs7961816	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967860	0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7971161	0.82[EUR][1000 genomes]
rs7975549	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7977065	0.83[AMR][1000 genomes]
rs905722	0.84[EUR][1000 genomes]
rs924835	0.84[EUR][1000 genomes]
rs924836	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs958543	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[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	nsv899137	chr12:60568891-60797083	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	nsv1054287	chr12:60601870-60861866	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv832431	chr12:60626292-60809233	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7973156	RDH5	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:60679600-60691000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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