Variant report

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

rs_ID	r²[population]
rs12456873	0.86[ASN][1000 genomes]
rs12605129	0.98[CHD][hapmap];0.83[JPT][hapmap];0.89[ASN][1000 genomes]
rs12606108	0.86[ASN][1000 genomes]
rs12606122	0.86[ASN][1000 genomes]
rs12954257	0.85[ASN][1000 genomes]
rs12957891	0.83[CEU][hapmap];0.87[CHB][hapmap];0.84[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs12960691	0.87[ASN][1000 genomes]
rs12961855	0.98[CHD][hapmap];0.89[ASN][1000 genomes]
rs12962122	0.85[ASN][1000 genomes]
rs12962341	0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs12964976	0.86[ASN][1000 genomes]
rs12966339	0.84[ASN][1000 genomes]
rs12966486	0.85[ASN][1000 genomes]
rs12967201	0.85[ASN][1000 genomes]
rs12967203	0.93[CHD][hapmap];0.85[ASN][1000 genomes]
rs12971196	0.85[ASN][1000 genomes]
rs35150497	0.82[ASN][1000 genomes]
rs4541146	0.86[ASN][1000 genomes]
rs56392464	0.80[ASN][1000 genomes]
rs7226488	0.82[ASN][1000 genomes]
rs7230653	0.87[ASN][1000 genomes]
rs7231146	0.87[ASN][1000 genomes]
rs8097296	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
2	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12607424	MC2R	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11669600-11675000	Weak transcription	Right Atrium	heart
2	chr18:11670200-11677000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:11670600-11671000	Weak transcription	Esophagus	oesophagus

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