Variant report

Variant	rs2194455
Chromosome Location	chr2:31248493-31248494
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	chr2:31247169..31249491-chr2:31252132..31255050,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10164479	0.80[CHB][hapmap]
rs10174368	0.80[CHB][hapmap]
rs10198054	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10865086	0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12464083	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12613732	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12617279	0.87[CEU][hapmap]
rs12621546	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12621813	0.80[ASN][1000 genomes]
rs12712301	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12712304	0.91[CEU][hapmap]
rs12999804	0.87[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13009779	0.83[CEU][hapmap]
rs1862966	0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1862967	0.88[YRI][hapmap];0.82[AMR][1000 genomes]
rs1862968	0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2194454	0.80[CHB][hapmap]
rs4245766	0.82[CEU][hapmap]
rs4951960	0.95[CEU][hapmap];0.82[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4952028	0.84[CHB][hapmap]
rs5009910	0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7558425	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs7582401	0.80[CHB][hapmap]
rs7605982	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][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	nsv948552	chr2:31118599-31595424	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31232600-31251000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:31235200-31251000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:31235400-31251000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:31236400-31249400	Weak transcription	NHEK	skin
5	chr2:31246400-31251000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:31246400-31261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links