Variant report

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13044731	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2023386	0.87[JPT][hapmap]
rs2423968	0.91[JPT][hapmap]
rs2423969	0.87[JPT][hapmap]
rs2423970	0.87[JPT][hapmap]
rs377187	0.86[JPT][hapmap]
rs448644	0.84[ASN][1000 genomes]
rs455659	0.84[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs458236	0.81[CEU][hapmap]
rs459448	0.82[ASN][1000 genomes]
rs459928	0.93[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs459989	0.92[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs460066	0.81[AMR][1000 genomes]
rs460654	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs462849	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs463020	0.91[JPT][hapmap];0.93[MKK][hapmap];0.82[YRI][hapmap]
rs464304	0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs464735	0.85[CHD][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs466243	0.84[CEU][hapmap];0.91[JPT][hapmap];0.89[MKK][hapmap];0.82[YRI][hapmap]
rs6135477	0.86[JPT][hapmap]
rs6135478	0.91[JPT][hapmap];0.89[MKK][hapmap]
rs6135480	0.91[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	nsv869328	chr20:15325423-16213898	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv2751909	chr20:15489871-15656007	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833928	chr20:15619962-15780758	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1420440	SPTLC3	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15619400-15634600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr20:15630400-15636400	Weak transcription	NHDF-Ad	bronchial
3	chr20:15631000-15636200	Weak transcription	Colon Smooth Muscle	Colon
4	chr20:15631600-15634400	Weak transcription	GM12878-XiMat	blood
5	chr20:15634000-15634400	Enhancers	Fetal Kidney	kidney
6	chr20:15634000-15634600	Enhancers	Fetal Intestine Small	intestine
7	chr20:15634000-15641200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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