Variant report

Variant	rs2098
Chromosome Location	chr1:47933238-47933239
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10218615	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789509	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890480	0.89[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11211489	0.86[ASN][1000 genomes]
rs11211490	0.86[ASN][1000 genomes]
rs11211492	0.86[ASN][1000 genomes]
rs11211495	0.86[ASN][1000 genomes]
rs11211500	0.86[ASN][1000 genomes]
rs11211505	0.86[ASN][1000 genomes]
rs11211512	0.86[ASN][1000 genomes]
rs11211533	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs11211537	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11577960	0.86[ASN][1000 genomes]
rs11578360	0.86[ASN][1000 genomes]
rs11580114	0.86[ASN][1000 genomes]
rs11580148	0.86[ASN][1000 genomes]
rs11583162	0.86[ASN][1000 genomes]
rs11585530	1.00[CHB][hapmap]
rs11587014	0.86[ASN][1000 genomes]
rs11587107	0.86[ASN][1000 genomes]
rs11588964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065137	1.00[CHB][hapmap];0.88[YRI][hapmap];0.80[ASN][1000 genomes]
rs12080109	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12118205	0.86[ASN][1000 genomes]
rs12118206	0.86[ASN][1000 genomes]
rs12123358	0.86[ASN][1000 genomes]
rs12129594	0.86[ASN][1000 genomes]
rs12131978	0.86[ASN][1000 genomes]
rs12132909	0.86[ASN][1000 genomes]
rs12141529	0.85[AFR][1000 genomes]
rs12143808	0.86[ASN][1000 genomes]
rs12145974	0.86[ASN][1000 genomes]
rs12184262	0.86[ASN][1000 genomes]
rs12184269	0.86[ASN][1000 genomes]
rs12184297	0.86[ASN][1000 genomes]
rs12406951	0.86[ASN][1000 genomes]
rs12407463	0.86[ASN][1000 genomes]
rs12410850	0.86[ASN][1000 genomes]
rs12729251	0.86[ASN][1000 genomes]
rs12732067	0.83[AMR][1000 genomes]
rs12735320	0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs12738065	0.86[ASN][1000 genomes]
rs12751405	0.80[ASN][1000 genomes]
rs12756634	0.86[ASN][1000 genomes]
rs13374382	0.86[ASN][1000 genomes]
rs13376679	0.86[ASN][1000 genomes]
rs1572546	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs17103095	0.86[ASN][1000 genomes]
rs17103322	1.00[CHB][hapmap]
rs17103342	1.00[CHB][hapmap];0.83[CHD][hapmap]
rs2097	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2405787	0.86[ASN][1000 genomes]
rs2897238	0.86[ASN][1000 genomes]
rs33980430	0.86[ASN][1000 genomes]
rs4480403	0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs56804458	0.86[ASN][1000 genomes]
rs58891696	0.86[ASN][1000 genomes]
rs6660651	0.86[ASN][1000 genomes]
rs6665067	0.94[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6670458	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6688804	0.86[ASN][1000 genomes]
rs6691723	1.00[CHB][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs67905093	0.86[ASN][1000 genomes]
rs71502303	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72686209	0.86[ASN][1000 genomes]
rs7354822	0.86[ASN][1000 genomes]
rs7514213	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525802	0.80[ASN][1000 genomes]
rs7548099	0.86[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2098	DMAP1	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47925800-47934200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:47933200-47936400	Enhancers	Brain Germinal Matrix	brain

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