Variant report

Variant	rs1571249
Chromosome Location	chr20:22663357-22663358
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:22662752..22665506-chr20:22668517..22671385,2	K562	blood:
2	chr20:22301609..22304069-chr20:22663105..22665240,2	K562	blood:
3	chr20:22662753..22664553-chr20:22664803..22667608,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230400	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1543443	0.88[EUR][1000 genomes]
rs1571251	0.87[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1571252	0.88[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2145059	0.89[EUR][1000 genomes]
rs2145060	0.89[EUR][1000 genomes]
rs2145061	0.89[EUR][1000 genomes]
rs2209796	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2424454	0.85[EUR][1000 genomes]
rs2424456	0.89[EUR][1000 genomes]
rs2424457	0.89[EUR][1000 genomes]
rs2424458	0.89[EUR][1000 genomes]
rs2424459	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4499503	0.94[EUR][1000 genomes]
rs4815134	0.89[EUR][1000 genomes]
rs4815135	0.84[EUR][1000 genomes]
rs6036168	0.88[EUR][1000 genomes]
rs6036169	0.89[EUR][1000 genomes]
rs6036172	0.94[EUR][1000 genomes]
rs6036173	0.87[EUR][1000 genomes]
rs6036175	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6036176	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs6048241	0.94[EUR][1000 genomes]
rs6048245	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6048247	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6048249	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6048253	0.87[EUR][1000 genomes]
rs6048254	0.91[EUR][1000 genomes]
rs6075933	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6075934	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6082774	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6082777	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6082778	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6082779	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6082784	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6082789	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs6082790	0.91[EUR][1000 genomes]
rs6113758	0.88[EUR][1000 genomes]
rs6113762	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6132537	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6137721	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7273357	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73304706	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73304707	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22645600-22664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:22660000-22667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:22660200-22669400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22661600-22664200	Weak transcription	A549	lung
5	chr20:22661600-22664600	Weak transcription	Pancreas	Pancrea
6	chr20:22662400-22664400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr20:22663000-22663600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:22663200-22663600	Enhancers	NHEK	skin

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