Variant report

Variant	rs6048249
Chromosome Location	chr20:22660111-22660112
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	chr20:22659418..22661015-chr20:22665485..22668368,2	K562	blood:

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]
rs1571249	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs1571251	0.87[CEU][hapmap];0.90[EUR][1000 genomes]
rs1571252	0.88[CEU][hapmap];0.89[EUR][1000 genomes]
rs2145059	0.88[EUR][1000 genomes]
rs2145060	0.88[EUR][1000 genomes]
rs2145061	0.88[EUR][1000 genomes]
rs2209796	0.98[EUR][1000 genomes]
rs2424454	0.84[EUR][1000 genomes]
rs2424456	0.88[EUR][1000 genomes]
rs2424457	0.88[EUR][1000 genomes]
rs2424458	0.88[EUR][1000 genomes]
rs2424459	0.94[EUR][1000 genomes]
rs4499503	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4815134	0.88[EUR][1000 genomes]
rs4815135	0.83[EUR][1000 genomes]
rs6036168	0.87[EUR][1000 genomes]
rs6036169	0.88[EUR][1000 genomes]
rs6036172	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6036173	0.86[EUR][1000 genomes]
rs6036175	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6036176	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6048241	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6048245	0.94[EUR][1000 genomes]
rs6048247	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6048253	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6048254	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6075933	0.94[EUR][1000 genomes]
rs6075934	0.94[EUR][1000 genomes]
rs6082774	0.94[EUR][1000 genomes]
rs6082777	0.94[EUR][1000 genomes]
rs6082778	0.94[EUR][1000 genomes]
rs6082779	0.94[EUR][1000 genomes]
rs6082784	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs6082789	0.87[CEU][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6082790	0.89[EUR][1000 genomes]
rs6113758	0.87[EUR][1000 genomes]
rs6113762	0.94[EUR][1000 genomes]
rs6132537	0.94[EUR][1000 genomes]
rs6137721	0.94[EUR][1000 genomes]
rs7273357	0.94[EUR][1000 genomes]
rs73304706	0.94[EUR][1000 genomes]
rs73304707	0.94[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:5 , 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	chr20:22656400-22662200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr20:22659200-22660200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:22660000-22661800	Bivalent Enhancer	HepG2	liver
5	chr20:22660000-22667000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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