Variant report

Variant	rs12522310
Chromosome Location	chr5:95625548-95625549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10052354	0.85[ASN][1000 genomes]
rs10065122	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10074626	0.85[ASN][1000 genomes]
rs10476666	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11950062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12054709	0.83[ASN][1000 genomes]
rs1477368	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4288139	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4336380	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4355545	0.84[ASN][1000 genomes]
rs6556913	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6864629	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6868247	0.84[ASN][1000 genomes]
rs6868724	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6882897	0.82[ASN][1000 genomes]
rs6893547	0.81[CEU][hapmap]
rs6899303	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7443470	0.83[ASN][1000 genomes]
rs7706771	0.83[ASN][1000 genomes]
rs7710625	0.90[YRI][hapmap];0.81[AFR][1000 genomes]
rs7714951	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7716096	0.81[ASN][1000 genomes]
rs7733672	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7737206	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[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	nsv1030444	chr5:95353620-95995619	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv537810	chr5:95353620-95995619	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv830410	chr5:95505799-95666310	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr5:95612600-95632400	Weak transcription	Aorta	Aorta
2	chr5:95617400-95628600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:95617400-95637600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr5:95617800-95628400	Weak transcription	NHEK	skin
5	chr5:95623200-95625600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:95623400-95626000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr5:95623800-95625600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:95624600-95628600	Weak transcription	HepG2	liver
9	chr5:95624600-95629800	Weak transcription	A549	lung
10	chr5:95624800-95626200	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr5:95624800-95628400	Weak transcription	Adipose Nuclei	Adipose
12	chr5:95624800-95629800	Weak transcription	Osteobl	bone
13	chr5:95625000-95626600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:95625000-95628200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:95625000-95632400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:95625200-95626400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:95625200-95627000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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