Variant report

Variant	rs12518274
Chromosome Location	chr5:42460958-42460959
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10064323	0.87[ASN][1000 genomes]
rs10941576	0.87[ASN][1000 genomes]
rs1117110	0.96[ASN][1000 genomes]
rs11738365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs12513643	0.89[ASN][1000 genomes]
rs12514403	0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12515480	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517368	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12517931	0.89[ASN][1000 genomes]
rs12518010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520318	0.89[ASN][1000 genomes]
rs12522222	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12522421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12523537	0.87[ASN][1000 genomes]
rs12654242	0.84[ASN][1000 genomes]
rs12654986	0.82[AMR][1000 genomes]
rs13166255	0.81[ASN][1000 genomes]
rs13185872	0.87[ASN][1000 genomes]
rs1396768	0.96[ASN][1000 genomes]
rs1396775	0.87[ASN][1000 genomes]
rs1472947	0.87[ASN][1000 genomes]
rs1509455	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1509456	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1509460	0.90[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs1509462	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1509463	0.83[CHB][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1605851	0.93[ASN][1000 genomes]
rs16872537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16872543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs16872564	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1858136	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1858138	0.89[ASN][1000 genomes]
rs1876790	0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1960498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1979994	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2036745	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2202883	0.96[ASN][1000 genomes]
rs2221712	0.96[ASN][1000 genomes]
rs2395970	0.96[ASN][1000 genomes]
rs28498583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28943875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28943877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28943879	0.89[ASN][1000 genomes]
rs2940912	0.87[ASN][1000 genomes]
rs2940914	0.96[ASN][1000 genomes]
rs2940917	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2940918	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2940919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2940922	0.98[ASN][1000 genomes]
rs2940923	0.88[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2940927	0.80[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2940934	0.96[ASN][1000 genomes]
rs2940940	0.89[ASN][1000 genomes]
rs2940945	0.89[ASN][1000 genomes]
rs2972394	0.87[ASN][1000 genomes]
rs2972406	0.96[ASN][1000 genomes]
rs2972407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2972408	1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2972410	0.98[ASN][1000 genomes]
rs2972411	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2972412	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2972413	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2972414	0.85[ASN][1000 genomes]
rs2972418	0.82[CHB][hapmap]
rs34069689	1.00[EUR][1000 genomes]
rs3764453	0.91[ASN][1000 genomes]
rs4358532	0.82[ASN][1000 genomes]
rs4866781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866785	1.00[EUR][1000 genomes]
rs4866788	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866790	0.83[CHB][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4866795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4866896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4866901	1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4866919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4866932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4866933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4866935	0.83[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58179197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6451621	0.82[ASN][1000 genomes]
rs906817	0.89[ASN][1000 genomes]
rs949559	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs9686537	0.87[ASN][1000 genomes]
rs9687863	0.84[ASN][1000 genomes]
rs979233	0.87[ASN][1000 genomes]
rs991592	0.87[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	nsv933208	chr5:41879946-42876624	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	112 gene(s)	inside rSNPs	diseases
2	nsv492147	chr5:41902086-42896162	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	113 gene(s)	inside rSNPs	diseases
3	nsv948514	chr5:42270161-42519262	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42450000-42466800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr5:42454800-42471800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:42455000-42461200	Weak transcription	Right Atrium	heart
4	chr5:42455000-42469600	Weak transcription	Lung	lung
5	chr5:42455000-42474400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:42455000-42477400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr5:42455200-42461600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr5:42457400-42461200	Weak transcription	Left Ventricle	heart
9	chr5:42458600-42461600	Weak transcription	Fetal Lung	lung
10	chr5:42459200-42461200	Weak transcription	Adipose Nuclei	Adipose
11	chr5:42460000-42462200	Enhancers	Fetal Intestine Small	intestine
12	chr5:42460600-42461000	Weak transcription	Psoas Muscle	Psoas

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