Variant report

Variant	rs12657288
Chromosome Location	chr5:167196062-167196063
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10070839	0.98[ASN][1000 genomes]
rs10454965	0.84[ASN][1000 genomes]
rs10516038	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11134472	0.83[EUR][1000 genomes]
rs11738000	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11750131	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12651802	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13166995	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13436455	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1364368	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1364369	0.97[ASN][1000 genomes]
rs1834118	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2018599	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2336972	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2337000	0.91[EUR][1000 genomes]
rs2911499	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2973664	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2973667	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35366185	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4270713	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4479863	0.87[EUR][1000 genomes]
rs4583906	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4624810	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61165988	0.86[EUR][1000 genomes]
rs6861976	0.88[EUR][1000 genomes]
rs6862936	0.86[EUR][1000 genomes]
rs6863601	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6879227	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6880746	0.94[ASN][1000 genomes]
rs6891311	0.87[EUR][1000 genomes]
rs6898256	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7703401	0.92[AMR][1000 genomes];0.87[EUR][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	nsv932627	chr5:166744408-167290959	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1032559	chr5:167070888-167210684	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1027805	chr5:167082800-167285008	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	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	chr5:167183400-167197200	Weak transcription	HSMMtube	muscle
2	chr5:167186800-167197200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:167191600-167197400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:167192800-167197000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:167192800-167199400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:167193000-167196800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:167193000-167204400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:167195200-167197000	Weak transcription	HSMM	muscle
9	chr5:167195200-167197000	Weak transcription	Osteobl	bone
10	chr5:167195200-167197200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:167195400-167196800	Weak transcription	NHDF-Ad	bronchial
12	chr5:167196000-167197200	Weak transcription	HMEC	breast

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