Variant report

Variant	rs486485
Chromosome Location	chrX:73638773-73638774
allele	A/C
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	SPI1	chrX:73638757-73639056	HL-60	blood:	n/a	n/a

Variant related genes	Relation type
SLC16A2	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10284046	1.00[CHB][hapmap]
rs10855819	1.00[CEU][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs1151599	1.00[JPT][hapmap]
rs1151602	1.00[JPT][hapmap]
rs1263181	1.00[CHB][hapmap]
rs1263240	0.94[CEU][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs1263243	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1263244	0.94[CEU][hapmap];1.00[JPT][hapmap]
rs1263259	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs12835261	1.00[JPT][hapmap]
rs1341326	1.00[JPT][hapmap]
rs174164	1.00[JPT][hapmap]
rs34974916	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs473645	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs479640	1.00[CHB][hapmap]
rs484079	1.00[CHB][hapmap]
rs485156	1.00[CHB][hapmap]
rs486337	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4892385	1.00[CHB][hapmap]
rs4892386	1.00[CHB][hapmap]
rs4892514	1.00[CHB][hapmap]
rs499282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs500243	1.00[CHB][hapmap]
rs520684	1.00[CHB][hapmap]
rs523649	1.00[CHB][hapmap]
rs527480	0.85[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];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs538732	1.00[CHB][hapmap]
rs552075	1.00[CHB][hapmap]
rs557647	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];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs575348	0.85[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];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap]
rs5937283	1.00[CHB][hapmap]
rs5937811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs5937829	1.00[CHB][hapmap]
rs5937831	1.00[CHB][hapmap]
rs5937836	1.00[CHB][hapmap]
rs5937837	1.00[CHB][hapmap]
rs5937841	1.00[CHB][hapmap]
rs5937842	1.00[CHB][hapmap]
rs5937843	1.00[CHB][hapmap]
rs5937844	1.00[CHB][hapmap]
rs5981268	0.85[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs5981614	1.00[JPT][hapmap]
rs5981633	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3364045	chrX:72896383-73699363	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	301 gene(s)	inside rSNPs	diseases
2	nsv916758	chrX:73546406-74420929	Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv532878	chrX:73603325-74057587	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:73638000-73638800	Enhancers	HMEC	breast
2	chrX:73638400-73639000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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