Variant report

Variant	rs7864453
Chromosome Location	chr9:95209476-95209477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:95200885..95202422-chr9:95207460..95209970,2	K562	blood:
2	chr9:95207092..95209765-chr9:95219188..95221073,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10120210	1.00[YRI][hapmap]
rs10125510	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1058726	0.88[EUR][1000 genomes]
rs1058751	0.88[EUR][1000 genomes]
rs10733744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10761159	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1111047	1.00[YRI][hapmap]
rs1144933	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1152760	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1152761	0.86[CEU][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1152762	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1175737	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1175923	0.88[EUR][1000 genomes]
rs1175929	0.82[EUR][1000 genomes]
rs1175930	0.88[EUR][1000 genomes]
rs11787696	0.91[EUR][1000 genomes]
rs11789578	0.91[EUR][1000 genomes]
rs11792542	0.88[EUR][1000 genomes]
rs11793505	0.88[EUR][1000 genomes]
rs1536423	1.00[YRI][hapmap]
rs2084289	0.88[EUR][1000 genomes]
rs2131918	1.00[YRI][hapmap]
rs2295939	0.93[CEU][hapmap];1.00[YRI][hapmap];0.92[EUR][1000 genomes]
rs2296665	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs230223	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2398749	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2761680	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs41280213	0.91[EUR][1000 genomes]
rs41280215	0.91[EUR][1000 genomes]
rs472163	0.91[EUR][1000 genomes]
rs4743867	0.88[EUR][1000 genomes]
rs4743868	0.91[EUR][1000 genomes]
rs4743871	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4744124	0.88[EUR][1000 genomes]
rs4744125	0.88[EUR][1000 genomes]
rs501814	0.90[EUR][1000 genomes]
rs557066	0.92[EUR][1000 genomes]
rs55894730	0.91[EUR][1000 genomes]
rs56374228	0.91[EUR][1000 genomes]
rs6479421	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7042199	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs895639	0.91[EUR][1000 genomes]
rs9409464	0.91[EUR][1000 genomes]
rs9409465	0.90[EUR][1000 genomes]
rs9409467	0.91[EUR][1000 genomes]
rs9409469	1.00[ASW][hapmap];0.93[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9409659	0.91[EUR][1000 genomes]
rs9409660	0.91[EUR][1000 genomes]
rs9409661	0.91[EUR][1000 genomes]
rs9409662	0.89[EUR][1000 genomes]
rs9409665	0.93[CEU][hapmap];0.88[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9409666	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs944949	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9886781	1.00[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	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv1047337	chr9:95105638-95347484	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1049599	chr9:95170139-95265558	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7864453	C9orf79	cis	parietal	SCAN
rs7864453	ANKRD19	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95207400-95210600	Weak transcription	NHEK	skin
2	chr9:95208400-95209600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:95208600-95209600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr9:95208800-95210200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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