Variant report

Variant	rs6665067
Chromosome Location	chr1:47914863-47914864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47903024..47904874-chr1:47914470..47916409,2	K562	blood:
2	chr1:47909689..47914443-chr1:47914601..47918861,5	K562	blood:

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10218615	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10789509	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10890480	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211489	0.80[ASN][1000 genomes]
rs11211490	0.80[ASN][1000 genomes]
rs11211492	0.80[ASN][1000 genomes]
rs11211495	0.80[ASN][1000 genomes]
rs11211500	0.80[ASN][1000 genomes]
rs11211505	0.80[ASN][1000 genomes]
rs11211512	0.80[ASN][1000 genomes]
rs11211533	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11211537	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11577960	0.80[ASN][1000 genomes]
rs11578360	0.80[ASN][1000 genomes]
rs11580114	0.80[ASN][1000 genomes]
rs11580148	0.80[ASN][1000 genomes]
rs11583162	0.80[ASN][1000 genomes]
rs11585530	1.00[CHB][hapmap]
rs11587014	0.80[ASN][1000 genomes]
rs11587107	0.80[ASN][1000 genomes]
rs11588964	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12065137	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12080109	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12118205	0.80[ASN][1000 genomes]
rs12118206	0.80[ASN][1000 genomes]
rs12123358	0.80[ASN][1000 genomes]
rs12129594	0.80[ASN][1000 genomes]
rs12131978	0.80[ASN][1000 genomes]
rs12132909	0.80[ASN][1000 genomes]
rs12141529	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12143808	0.80[ASN][1000 genomes]
rs12145974	0.80[ASN][1000 genomes]
rs12184262	0.80[ASN][1000 genomes]
rs12184269	0.80[ASN][1000 genomes]
rs12184297	0.80[ASN][1000 genomes]
rs12406951	0.80[ASN][1000 genomes]
rs12407463	0.80[ASN][1000 genomes]
rs12410850	0.80[ASN][1000 genomes]
rs12729251	0.80[ASN][1000 genomes]
rs12735320	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12738065	0.80[ASN][1000 genomes]
rs12751405	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12756634	0.80[ASN][1000 genomes]
rs12759377	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13374382	0.80[ASN][1000 genomes]
rs13376679	0.80[ASN][1000 genomes]
rs1572546	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17103095	0.80[ASN][1000 genomes]
rs17103322	1.00[CHB][hapmap]
rs17103342	1.00[CHB][hapmap]
rs2097	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2098	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2405787	0.80[ASN][1000 genomes]
rs2897238	0.80[ASN][1000 genomes]
rs33980430	0.80[ASN][1000 genomes]
rs36054263	0.80[ASN][1000 genomes]
rs4480403	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56804458	0.80[ASN][1000 genomes]
rs58891696	0.80[ASN][1000 genomes]
rs6660651	0.80[ASN][1000 genomes]
rs6670458	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6688804	0.80[ASN][1000 genomes]
rs6691723	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67905093	0.80[ASN][1000 genomes]
rs71502303	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72686209	0.80[ASN][1000 genomes]
rs7354822	0.80[ASN][1000 genomes]
rs7514213	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7525802	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7528075	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7548099	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	chr1:47913000-47915600	Weak transcription	Pancreas	Pancrea
3	chr1:47913000-47920800	Weak transcription	Right Atrium	heart
4	chr1:47913800-47916800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:47914600-47915600	Bivalent Enhancer	Fetal Lung	lung
6	chr1:47914800-47915000	Enhancers	A549	lung
7	chr1:47914800-47915200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
8	chr1:47914800-47915800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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