Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774496	0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10849647	0.93[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap]
rs10849651	0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.81[ASN][1000 genomes]
rs10849652	0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap]
rs10849654	0.95[ASN][1000 genomes]
rs10849656	0.93[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs10849657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10849658	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11064757	0.84[JPT][hapmap]
rs11064761	0.88[CHB][hapmap];0.85[JPT][hapmap]
rs11064763	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11064764	0.93[CHB][hapmap];1.00[JPT][hapmap]
rs12370130	0.92[CHD][hapmap];0.85[JPT][hapmap]
rs34765258	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4300442	0.93[CHB][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.96[ASN][1000 genomes]
rs4346024	0.98[ASN][1000 genomes]
rs4465416	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4991185	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs7298161	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7301599	1.00[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs7313792	1.00[CHB][hapmap];0.94[JPT][hapmap]

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	nsv1047036	chr12:119477583-119992640	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv916688	chr12:119801814-120044407	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv899553	chr12:119837250-119876571	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10849659	SIRT4	cis	cerebellum	SCAN
rs10849659	SRRM4	cis	cerebellum	SCAN
rs10849659	RPLP0	cis	parietal	SCAN
rs10849659	FBXO21	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:119834400-119850800	Weak transcription	Right Ventricle	heart
2	chr12:119843000-119847800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:119844400-119847200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:119845000-119848200	Weak transcription	Fetal Heart	heart
5	chr12:119845000-119849600	Weak transcription	Lung	lung
6	chr12:119846000-119847000	Enhancers	Rectal Smooth Muscle	rectum
7	chr12:119846400-119846800	Weak transcription	Colon Smooth Muscle	Colon

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