Variant report

Variant	rs2249372
Chromosome Location	chr7:103238210-103238211
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:103232129..103235431-chr7:103236152..103239545,4	K562	blood:
2	chr7:103237346..103240101-chr7:103240935..103244727,4	K562	blood:
3	chr7:103238139..103240101-chr7:103242942..103244727,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10244159	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10245257	1.00[CEU][hapmap];1.00[CHD][hapmap];0.94[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10247439	0.88[CEU][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap]
rs11983439	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs123712	0.88[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs123713	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs123714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667604	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1990425	0.84[EUR][1000 genomes]
rs2058378	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2058379	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2073551	0.81[CEU][hapmap]
rs2098178	0.83[EUR][1000 genomes]
rs2109697	0.88[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2159675	0.83[EUR][1000 genomes]
rs2159676	0.85[TSI][hapmap]
rs2159677	0.81[CEU][hapmap];0.85[GIH][hapmap]
rs2191702	1.00[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2245617	0.91[TSI][hapmap]
rs2535755	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2535771	0.83[EUR][1000 genomes]
rs2711870	0.81[MEX][hapmap];0.82[TSI][hapmap];0.83[EUR][1000 genomes]
rs2711875	0.84[EUR][1000 genomes]
rs2711876	0.84[EUR][1000 genomes]
rs2907929	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs3095356	0.83[EUR][1000 genomes]
rs362626	0.82[TSI][hapmap];0.84[EUR][1000 genomes]
rs362635	0.81[CEU][hapmap];0.84[GIH][hapmap]
rs362642	0.84[CHB][hapmap];0.81[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs362644	0.83[CHB][hapmap];0.83[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs362658	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs362688	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs362695	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs362728	0.81[EUR][1000 genomes]
rs362729	0.83[EUR][1000 genomes]
rs362733	0.84[EUR][1000 genomes]
rs3757744	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3808024	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3823981	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4341089	0.85[TSI][hapmap];0.84[EUR][1000 genomes]
rs496907	0.83[JPT][hapmap];0.85[TSI][hapmap]
rs722613	0.89[JPT][hapmap]
rs9656083	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs995450	0.94[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491911	chr7:102967150-103403622	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv831085	chr7:103140672-103342388	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2249372	C7orf52	cis	parietal	SCAN
rs2249372	PRKAR2B	cis	cerebellum	SCAN
rs2249372	C7orf52	cis	cerebellum	SCAN
rs2249372	ZKSCAN5	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:103206000-103243400	Weak transcription	K562	blood
2	chr7:103230400-103246200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:103235000-103249200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:103237600-103238800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr7:103237600-103241400	Weak transcription	HepG2	liver
6	chr7:103238200-103238400	Bivalent Enhancer	HUVEC	blood vessel
7	chr7:103238200-103238600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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