Variant report

Variant	rs3748707
Chromosome Location	chr1:222086771-222086772
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	chr1:222077733..222080601-chr1:222081342..222088345,8	K562	blood:
2	chr1:222083017..222085674-chr1:222086266..222087921,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11118897	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11118898	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11118899	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11118900	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11118901	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12034288	0.82[EUR][1000 genomes]
rs12035786	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12122784	0.82[EUR][1000 genomes]
rs12132356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12136822	0.88[EUR][1000 genomes]
rs12144436	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12743521	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12755244	0.82[EUR][1000 genomes]
rs17494423	0.85[EUR][1000 genomes]
rs2378490	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2889912	0.82[ASN][1000 genomes]
rs35494468	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3828088	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3924223	0.87[ASN][1000 genomes]
rs4457591	0.85[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4636470	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4846734	0.87[EUR][1000 genomes]
rs4846735	0.87[EUR][1000 genomes]
rs61392684	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61826479	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6690767	0.80[EUR][1000 genomes]
rs6700163	0.80[EUR][1000 genomes]
rs7544501	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7544814	0.88[EUR][1000 genomes]

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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222075200-222097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:222081200-222097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:222083200-222092600	Weak transcription	HSMMtube	muscle
4	chr1:222083600-222092400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:222084800-222087200	Weak transcription	Esophagus	oesophagus
6	chr1:222085800-222086800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:222086000-222097600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:222086600-222087200	Enhancers	HMEC	breast

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