Variant report

Variant	rs9470426
Chromosome Location	chr6:36846988-36846989
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr6:36846886-36847055	HepG2	liver:	n/a	chr6:36846985-36846996
2	USF1	chr6:36846875-36847101	HepG2	liver:	n/a	chr6:36846985-36846996
3	GATA1	chr6:36846723-36847215	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:36844707..36849057-chr6:36849516..36855847,7	K562	blood:
2	chr6:36844782..36847155-chr6:36952740..36955227,2	K562	blood:
3	chr6:36841754..36844106-chr6:36846593..36850227,6	MCF-7	breast:
4	chr6:36846821..36848533-chr6:36952651..36955287,2	K562	blood:
5	chr6:36846305..36850172-chr6:36852075..36854803,3	K562	blood:

Variant related genes	Relation type
PPIL1	TF binding region
ENSG00000137168	Chromatin interaction
ENSG00000137409	Chromatin interaction
ENSG00000198663	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1022696	0.83[YRI][hapmap]
rs10947647	0.81[YRI][hapmap]
rs1150784	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11759850	0.83[YRI][hapmap]
rs12528273	0.81[JPT][hapmap]
rs2116447	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2272275	0.81[YRI][hapmap]
rs2272276	0.81[YRI][hapmap]
rs2293393	0.85[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2303993	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs236349	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs236352	0.96[ASN][1000 genomes]
rs236385	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs236386	0.80[CHB][hapmap];0.89[JPT][hapmap]
rs2395663	0.81[YRI][hapmap]
rs3756905	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778016	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3778017	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846871	0.95[ASN][1000 genomes]
rs3957238	0.89[YRI][hapmap];0.80[AFR][1000 genomes]
rs449840	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4594944	0.81[CHB][hapmap];0.82[ASN][1000 genomes]
rs460539	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs4714018	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[ASN][1000 genomes]
rs58214515	0.96[ASN][1000 genomes]
rs62406643	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6457963	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6909988	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6910832	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.96[ASN][1000 genomes]
rs6914008	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6932175	0.81[YRI][hapmap]
rs6934844	0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[ASN][1000 genomes]
rs7743646	0.92[YRI][hapmap]
rs7743836	0.81[YRI][hapmap]
rs7761653	0.81[YRI][hapmap]
rs7774420	0.81[YRI][hapmap]
rs831480	0.80[CHB][hapmap]
rs8472	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9296200	0.83[YRI][hapmap]
rs9366920	0.98[ASN][1000 genomes]
rs9368966	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9380610	0.82[CEU][hapmap]
rs9380616	0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.98[ASN][1000 genomes]
rs9380618	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9380626	0.86[ASN][1000 genomes]
rs9462233	0.92[AFR][1000 genomes]
rs9462240	0.81[YRI][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9470426	PPIL1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36843600-36847400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr6:36843600-36847800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr6:36843600-36853000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr6:36843800-36853000	Weak transcription	Osteobl	bone
5	chr6:36846000-36848000	Bivalent Enhancer	HepG2	liver
6	chr6:36846000-36848000	Enhancers	K562	blood
7	chr6:36846600-36847800	Enhancers	Fetal Heart	heart
8	chr6:36846800-36847000	Enhancers	Right Atrium	heart
9	chr6:36846800-36847600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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