Variant report

Variant	rs1572546
Chromosome Location	chr1:47912942-47912943
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47910388..47913374-chr1:47915734..47917364,2	K562	blood:
2	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10157734	0.80[ASN][1000 genomes]
rs10218615	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10789509	0.80[ASN][1000 genomes]
rs10890480	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211516	0.80[ASN][1000 genomes]
rs11211526	0.80[ASN][1000 genomes]
rs11211533	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211537	0.80[ASN][1000 genomes]
rs11577236	0.80[ASN][1000 genomes]
rs11579854	0.80[ASN][1000 genomes]
rs11584518	0.80[ASN][1000 genomes]
rs11585530	1.00[CHB][hapmap]
rs11587272	0.80[ASN][1000 genomes]
rs11588964	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12065137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12080109	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12117686	0.80[ASN][1000 genomes]
rs12123269	0.80[ASN][1000 genomes]
rs12129259	0.80[ASN][1000 genomes]
rs12132521	0.80[ASN][1000 genomes]
rs12134888	0.80[ASN][1000 genomes]
rs12135037	0.80[ASN][1000 genomes]
rs12139700	0.80[ASN][1000 genomes]
rs12141529	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12145103	0.80[ASN][1000 genomes]
rs12718447	0.80[ASN][1000 genomes]
rs12735320	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12749507	0.80[ASN][1000 genomes]
rs12751405	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751618	0.80[ASN][1000 genomes]
rs12759377	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17103168	0.80[ASN][1000 genomes]
rs17103322	1.00[CHB][hapmap]
rs17103342	1.00[CHB][hapmap]
rs17370386	0.80[ASN][1000 genomes]
rs17378887	0.86[ASN][1000 genomes]
rs2097	0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2098	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34192192	0.80[ASN][1000 genomes]
rs34979288	0.80[ASN][1000 genomes]
rs35234940	0.80[ASN][1000 genomes]
rs35601384	0.80[ASN][1000 genomes]
rs36054263	0.93[ASN][1000 genomes]
rs4480403	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481897	0.80[ASN][1000 genomes]
rs60352530	0.80[ASN][1000 genomes]
rs6665067	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6670458	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6691723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67221389	0.80[ASN][1000 genomes]
rs67295054	0.80[ASN][1000 genomes]
rs71502303	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7415976	0.80[ASN][1000 genomes]
rs7514213	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7525802	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7528075	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7534328	0.80[ASN][1000 genomes]
rs9725517	0.80[ASN][1000 genomes]

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	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:47907600-47918400	Weak transcription	Aorta	Aorta
2	chr1:47911800-47913000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
3	chr1:47912000-47913000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
4	chr1:47912600-47913000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:47912600-47913000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:47912600-47913000	Strong transcription	Right Atrium	heart
7	chr1:47912600-47913000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
8	chr1:47912800-47913000	Enhancers	Pancreas	Pancrea

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