Variant report

Variant	rs6991818
Chromosome Location	chr8:69239634-69239635
allele	C/G
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	MAFK	chr8:69239414-69239727	HepG2	liver:	n/a	chr8:69239554-69239570 chr8:69239554-69239569 chr8:69239555-69239566 chr8:69239554-69239565 chr8:69239554-69239565 chr8:69239553-69239567
2	MAFK	chr8:69239434-69239726	IMR90	lung:	n/a	chr8:69239554-69239570 chr8:69239554-69239569 chr8:69239555-69239566 chr8:69239554-69239565 chr8:69239554-69239565 chr8:69239553-69239567
3	MAFF	chr8:69239412-69239689	HepG2	liver:	n/a	n/a
4	MAFK	chr8:69239421-69239685	HepG2	liver:	n/a	chr8:69239554-69239570 chr8:69239554-69239569 chr8:69239555-69239566 chr8:69239554-69239565 chr8:69239554-69239565 chr8:69239553-69239567

Variant related genes	Relation type
C8orf34	TF binding region

Extended variants
information (count: 42 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10098538	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10104993	0.80[GIH][hapmap]
rs13251356	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13252745	0.81[ASN][1000 genomes]
rs13257807	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13261104	0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13262740	0.96[CEU][hapmap];0.90[CHB][hapmap];0.89[JPT][hapmap];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13276394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap]
rs13278793	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1517124	0.90[CHB][hapmap];0.87[CHD][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]
rs1607144	0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[ASN][1000 genomes]
rs1971404	0.96[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1971527	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2138677	0.92[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs2176368	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs2591011	0.81[ASN][1000 genomes]
rs2591012	0.81[ASN][1000 genomes]
rs2591016	0.80[ASN][1000 genomes]
rs4346979	0.81[ASN][1000 genomes]
rs6472395	0.96[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs6982836	0.81[CHD][hapmap];0.84[MEX][hapmap]
rs7000384	0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7001418	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7004646	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7013597	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7015549	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7017437	0.88[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap]
rs7818147	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7822588	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7823116	0.96[CEU][hapmap];0.91[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.98[TSI][hapmap];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7823422	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7838935	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.93[GIH][hapmap];0.91[MEX][hapmap];0.84[EUR][1000 genomes]
rs814441	0.91[CHB][hapmap];0.92[CHD][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs814444	0.91[CHB][hapmap];0.90[JPT][hapmap]
rs814446	0.81[JPT][hapmap]
rs814463	0.85[ASN][1000 genomes]
rs868546	0.96[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];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9298133	0.81[ASN][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	nsv1028889	chr8:69026806-69308725	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv948687	chr8:69041121-69642540	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv890979	chr8:69176154-69252417	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv890980	chr8:69181681-69252417	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6991818	RPS20	trans	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:69237800-69240400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:69238000-69240400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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