Variant report

Variant	rs12189950
Chromosome Location	chr6:119392451-119392452
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:119215094..119217164-chr6:119391963..119394614,2	K562	blood:

Variant related genes	Relation type
ENSG00000111875	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10456919	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12190491	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12190974	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12191819	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12193093	0.97[ASN][1000 genomes]
rs12195153	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12195334	1.00[CHB][hapmap];0.89[JPT][hapmap];0.97[ASN][1000 genomes]
rs12195400	0.97[ASN][1000 genomes]
rs12197931	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs12198124	0.84[AFR][1000 genomes]
rs12201896	0.80[ASN][1000 genomes]
rs12204929	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206826	0.93[CHB][hapmap]
rs12214184	0.96[ASN][1000 genomes]
rs12214265	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1342793	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1407205	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs1418712	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1539434	0.80[ASN][1000 genomes]
rs1591368	0.97[ASN][1000 genomes]
rs1591369	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1775619	1.00[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2357022	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2782574	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2797355	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2797357	0.81[ASN][1000 genomes]
rs284914	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs3798595	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs4946384	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs55810806	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55919736	0.97[ASN][1000 genomes]
rs56347939	0.97[ASN][1000 genomes]
rs603770	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6937499	0.80[ASN][1000 genomes]
rs706971	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap]
rs706978	1.00[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs706979	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72953079	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72953080	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72955004	0.80[ASN][1000 genomes]
rs768995	1.00[CEU][hapmap]
rs768996	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs7745460	1.00[CHB][hapmap];0.89[JPT][hapmap];0.98[ASN][1000 genomes]
rs7768348	0.85[ASN][1000 genomes]
rs794250	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs794252	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs794253	0.80[AFR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs794254	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs794255	0.86[ASN][1000 genomes]
rs794259	1.00[CEU][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs794607	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs797002	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs797017	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs811201	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs811584	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9320673	0.80[ASN][1000 genomes]
rs9481870	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9481871	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9489535	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9489536	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9489537	0.93[CHB][hapmap]
rs9489543	1.00[CEU][hapmap];0.93[CHB][hapmap]
rs9489544	1.00[CEU][hapmap];0.93[CHB][hapmap]

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	nsv1030400	chr6:119320153-119433830	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	30 gene(s)	inside rSNPs	diseases
2	nsv528632	chr6:119380885-119397860	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	27 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	chr6:119385000-119397200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr6:119389200-119393400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:119391800-119392600	Enhancers	Fetal Intestine Small	intestine
4	chr6:119392200-119392800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:119392200-119393600	Enhancers	Fetal Intestine Large	intestine
6	chr6:119392400-119393200	Enhancers	HepG2	liver

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