Variant report

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

rs_ID	r²[population]
rs10735877	1.00[CHB][hapmap]
rs11831827	0.83[EUR][1000 genomes]
rs1436665	0.84[EUR][1000 genomes]
rs17121768	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121797	0.80[EUR][1000 genomes]
rs17536158	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17537478	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17618789	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17625922	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17626131	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4760146	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760248	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55670466	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55686452	0.80[AMR][1000 genomes]
rs56042852	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56225528	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56299412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56376361	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59263143	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134004	0.82[ASN][1000 genomes]
rs7955499	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9668093	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs978615	0.82[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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59344600-59355000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr12:59345000-59354000	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr12:59346600-59354000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:59350200-59354400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr12:59351200-59355000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr12:59351200-59355000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:59351400-59355800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr12:59352400-59356000	Enhancers	Rectal Mucosa Donor 31	rectum
9	chr12:59353200-59353600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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