Variant report

Variant	rs647282
Chromosome Location	chr6:144597243-144597244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144590590..144592327-chr6:144596380..144598878,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs2473129	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2502621	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs583341	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs583788	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs584283	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs586016	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs586471	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs586553	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs587691	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs587889	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs589892	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs591311	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs592388	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs592667	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs598222	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs599074	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs601816	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs601873	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs602764	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs603692	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs612928	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs615755	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs616619	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs619750	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs623320	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs632972	0.90[EUR][1000 genomes]
rs633106	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs633802	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs643596	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs644124	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs646837	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs649426	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs652262	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs652765	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs658562	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659899	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs660286	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs660307	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs660770	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs662419	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs664541	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs664721	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs665135	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs667740	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs667765	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs672468	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs676859	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs681854	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs681916	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs682704	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs74671	0.83[EUR][1000 genomes]
rs849661	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs647282	RP1-83M4.2	cis	Nerve Tibial	GTEx

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144586600-144599200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:144586800-144599600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:144586800-144599800	Weak transcription	Pancreas	Pancrea
4	chr6:144587800-144598600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:144587800-144599200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:144587800-144599800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:144587800-144599800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:144587800-144605000	Weak transcription	Right Atrium	heart
9	chr6:144587800-144605800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:144594800-144599600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr6:144597200-144597400	Enhancers	Esophagus	oesophagus

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