Variant report

Variant	rs2694388
Chromosome Location	chr12:105978553-105978554
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105977751..105980929-chr12:105984066..105986199,3	K562	blood:
2	chr12:105976268..105977876-chr12:105978553..105980790,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10735407	0.83[ASN][1000 genomes]
rs10861456	0.84[EUR][1000 genomes]
rs10861457	0.84[EUR][1000 genomes]
rs10861461	0.84[ASN][1000 genomes]
rs11112595	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112596	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1317555	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1526844	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1526846	0.87[ASN][1000 genomes]
rs1806811	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1997174	0.84[EUR][1000 genomes]
rs2049571	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2049572	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2374514	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2374515	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2694390	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2694394	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694395	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2694398	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2694399	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2694400	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2694401	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2694404	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2711732	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2711734	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711735	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2711736	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2711737	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2711739	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2711741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2888859	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4468444	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs876929	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs885131	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs941105	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105956600-105979000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:105965000-105979000	Weak transcription	Aorta	Aorta
3	chr12:105975400-105980200	Weak transcription	HUVEC	blood vessel
4	chr12:105978400-105978600	Enhancers	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links