Variant report

Variant	rs9470425
Chromosome Location	chr6:36844195-36844196
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:36843073..36845440-chr6:37281034..37282864,2	K562	blood:
2	chr6:36841338..36845965-chr6:36851992..36855231,4	MCF-7	breast:
3	chr6:36843073..36845711-chr6:37281034..37284112,3	K562	blood:

Variant related genes	Relation type
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10947649	1.00[CEU][hapmap]
rs11542163	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751310	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11751956	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11753183	0.81[EUR][1000 genomes]
rs11753835	0.91[AMR][1000 genomes]
rs11757851	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11759158	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs11759163	0.81[EUR][1000 genomes]
rs12660916	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12660989	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13191679	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13192293	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13200132	1.00[ASN][1000 genomes]
rs13205108	0.81[EUR][1000 genomes]
rs13205292	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13206310	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13207209	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13210299	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13219894	0.80[CEU][hapmap]
rs13219913	0.80[CEU][hapmap];0.81[TSI][hapmap];0.82[EUR][1000 genomes]
rs17552005	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34405617	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34433592	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34510528	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34597881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34869908	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34913693	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35819257	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs36098393	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569352	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71569356	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470429	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023171	chr6:36686935-36880899	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv538202	chr6:36686935-36880899	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9470425	RNF212	trans	lymphoblastoid	seeQTL
rs9470425	C6orf89	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36843400-36844200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:36843600-36844200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:36843600-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr6:36843600-36847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr6:36843600-36853000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr6:36843800-36844200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:36843800-36844400	Enhancers	Dnd41	blood
8	chr6:36843800-36846800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr6:36843800-36846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr6:36843800-36853000	Weak transcription	Osteobl	bone
11	chr6:36844000-36844200	Enhancers	K562	blood
12	chr6:36844000-36846600	Weak transcription	Fetal Heart	heart

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