Variant report

Variant	rs12522222
Chromosome Location	chr5:42453982-42453983
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10064323	0.89[ASN][1000 genomes]
rs10941576	0.89[ASN][1000 genomes]
rs1117110	0.98[ASN][1000 genomes]
rs11738365	0.98[ASN][1000 genomes]
rs12513643	0.91[ASN][1000 genomes]
rs12514403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12515480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12517368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12517931	0.91[ASN][1000 genomes]
rs12518010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12518274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12520318	0.91[ASN][1000 genomes]
rs12522421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12523537	0.89[ASN][1000 genomes]
rs12654242	0.86[ASN][1000 genomes]
rs12654986	0.82[AMR][1000 genomes]
rs13185872	0.89[ASN][1000 genomes]
rs1396768	0.98[ASN][1000 genomes]
rs1396775	0.89[ASN][1000 genomes]
rs1472947	0.89[ASN][1000 genomes]
rs1509455	0.98[ASN][1000 genomes]
rs1509456	0.98[ASN][1000 genomes]
rs1509460	0.96[ASN][1000 genomes]
rs1509462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1509463	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1605851	0.95[ASN][1000 genomes]
rs16872537	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16872543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs16872564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1858136	0.98[ASN][1000 genomes]
rs1858138	0.91[ASN][1000 genomes]
rs1876790	0.93[ASN][1000 genomes]
rs1960498	0.98[ASN][1000 genomes]
rs1979994	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2036745	0.96[ASN][1000 genomes]
rs2202883	0.98[ASN][1000 genomes]
rs2221712	0.98[ASN][1000 genomes]
rs2395970	0.98[ASN][1000 genomes]
rs28498583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28943875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28943877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28943879	0.87[ASN][1000 genomes]
rs2940912	0.89[ASN][1000 genomes]
rs2940914	0.98[ASN][1000 genomes]
rs2940917	0.96[ASN][1000 genomes]
rs2940918	0.90[ASN][1000 genomes]
rs2940919	0.96[ASN][1000 genomes]
rs2940922	0.96[ASN][1000 genomes]
rs2940923	0.95[ASN][1000 genomes]
rs2940927	0.91[ASN][1000 genomes]
rs2940934	0.98[ASN][1000 genomes]
rs2940940	0.91[ASN][1000 genomes]
rs2940945	0.91[ASN][1000 genomes]
rs2972394	0.89[ASN][1000 genomes]
rs2972406	0.98[ASN][1000 genomes]
rs2972407	0.98[ASN][1000 genomes]
rs2972408	0.95[ASN][1000 genomes]
rs2972410	0.96[ASN][1000 genomes]
rs2972411	0.96[ASN][1000 genomes]
rs2972412	0.96[ASN][1000 genomes]
rs2972413	0.96[ASN][1000 genomes]
rs2972414	0.84[ASN][1000 genomes]
rs34069689	1.00[EUR][1000 genomes]
rs3764453	0.93[ASN][1000 genomes]
rs4358532	0.84[ASN][1000 genomes]
rs4866781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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];0.96[ASN][1000 genomes]
rs4866790	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4866896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4866901	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4866919	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4866932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4866935	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58179197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451621	0.81[ASN][1000 genomes]
rs906817	0.91[ASN][1000 genomes]
rs949559	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes]
rs9686537	0.89[ASN][1000 genomes]
rs9687863	0.86[ASN][1000 genomes]
rs979233	0.89[ASN][1000 genomes]
rs991592	0.89[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:17 , 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	chr5:42453200-42455000	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr5:42453200-42455200	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr5:42453400-42455000	Enhancers	Liver	Liver
5	chr5:42453400-42455000	Enhancers	Psoas Muscle	Psoas
6	chr5:42453400-42455000	Enhancers	Right Atrium	heart
7	chr5:42453400-42455200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:42453400-42455200	Enhancers	Adipose Nuclei	Adipose
9	chr5:42453600-42454400	Enhancers	Fetal Heart	heart
10	chr5:42453600-42454800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:42453600-42454800	Enhancers	Right Ventricle	heart
12	chr5:42453600-42455000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr5:42453600-42455000	Enhancers	Left Ventricle	heart
14	chr5:42453800-42454800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:42453800-42454800	Enhancers	Ovary	ovary
16	chr5:42453800-42455000	Enhancers	Esophagus	oesophagus
17	chr5:42453800-42455000	Enhancers	Lung	lung

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