Variant report

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10036396	0.87[ASN][1000 genomes]
rs10040391	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1047577	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11249619	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12654617	0.83[ASN][1000 genomes]
rs13164561	0.91[ASN][1000 genomes]
rs17832583	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1872623	0.89[ASN][1000 genomes]
rs1963011	0.87[ASN][1000 genomes]
rs2133716	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2334991	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2650285	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34327383	0.89[ASN][1000 genomes]
rs3965330	0.84[ASN][1000 genomes]
rs4458584	0.88[ASN][1000 genomes]
rs56981142	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs59542146	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6882209	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6886539	0.84[ASN][1000 genomes]
rs6889184	0.89[ASN][1000 genomes]
rs7703727	0.89[ASN][1000 genomes]
rs7708299	0.94[ASN][1000 genomes]
rs7731783	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv969021	chr5:177060702-177111251	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10063842	RP11-1101H11.1	cis	Heart Left Ventricle	GTEx
rs10063842	B4GALT7	cis	Whole Blood	GTEx
rs10063842	FAM153A	cis	Heart Left Ventricle	GTEx

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177054400-177096000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr5:177076800-177098200	Weak transcription	Fetal Stomach	stomach
3	chr5:177077000-177098200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr5:177091800-177092400	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr5:177092200-177092400	Enhancers	Rectal Mucosa Donor 31	rectum

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