Variant report

Variant	rs12021711
Chromosome Location	chr1:172861182-172861183
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:172859088..172861490-chr1:172863508..172865755,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10489276	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912488	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10912490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10912491	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12025176	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12037853	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12047983	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12136659	0.85[EUR][1000 genomes]
rs12403628	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12411259	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12728265	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12739009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747422	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12748081	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2157453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2157454	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213742	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2422257	1.00[JPT][hapmap]
rs35715673	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4145468	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4145469	1.00[JPT][hapmap]
rs4916198	0.86[EUR][1000 genomes]
rs4916283	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916285	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55724017	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6425143	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6425145	0.94[EUR][1000 genomes]
rs6425146	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6661686	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6672776	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6688532	1.00[JPT][hapmap]
rs6699678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68143871	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7517810	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7527462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527986	1.00[JPT][hapmap]
rs7539319	1.00[JPT][hapmap]
rs9286879	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12021711	ANKRD45	cis	parietal	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172852600-172862400	Weak transcription	Pancreas	Pancrea
2	chr1:172855400-172862400	Weak transcription	NH-A	brain
3	chr1:172855600-172861800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:172855600-172861800	Weak transcription	Hela-S3	cervix
5	chr1:172856800-172861600	Weak transcription	HUVEC	blood vessel
6	chr1:172857000-172862000	Weak transcription	A549	lung
7	chr1:172857000-172862400	Weak transcription	Stomach Mucosa	stomach
8	chr1:172859800-172862200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:172861000-172861200	Enhancers	Placenta Amnion	Placenta Amnion

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