Variant report

Variant	rs193088
Chromosome Location	chr1:185554476-185554477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11605	0.90[MEX][hapmap]
rs1321987	0.89[JPT][hapmap]
rs1553487	0.81[ASN][1000 genomes]
rs168004	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs170788	0.82[AMR][1000 genomes]
rs186732	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2208600	0.82[AMR][1000 genomes]
rs2756198	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2756199	0.90[MEX][hapmap]
rs2756204	0.82[AMR][1000 genomes]
rs2756205	0.82[AMR][1000 genomes]
rs2756206	0.90[MEX][hapmap]
rs2756207	0.82[AMR][1000 genomes]
rs2756209	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2821435	0.90[MEX][hapmap]
rs2821436	0.96[CEU][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];0.90[MEX][hapmap];0.91[TSI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2842580	0.82[CEU][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs2842582	0.82[AMR][1000 genomes]
rs2842591	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333701	0.82[AMR][1000 genomes]
rs333702	0.82[AMR][1000 genomes]
rs333703	0.82[AMR][1000 genomes]
rs333704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333705	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333706	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs333708	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs333709	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs333710	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs333711	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333712	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333713	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333716	0.82[AMR][1000 genomes]
rs333717	0.82[AMR][1000 genomes]
rs333718	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333719	0.82[AMR][1000 genomes]
rs333720	0.82[AMR][1000 genomes]
rs333721	0.82[AMR][1000 genomes]
rs333724	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs333726	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs333727	0.82[AMR][1000 genomes]
rs333728	0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4233122	0.81[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs4233123	0.81[ASN][1000 genomes]
rs4344284	1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs4427366	0.81[ASN][1000 genomes]
rs479511	0.82[AMR][1000 genomes]
rs486969	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs492436	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs494700	0.81[EUR][1000 genomes]
rs495416	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs496413	0.82[AMR][1000 genomes]
rs498961	0.82[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs506429	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs507076	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs516040	0.90[ASW][hapmap];1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];0.83[LWK][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs518472	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs521481	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs522048	0.84[AMR][1000 genomes]
rs528985	0.81[AMR][1000 genomes]
rs531472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];0.89[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs534817	0.83[EUR][1000 genomes]
rs545105	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550874	0.82[AMR][1000 genomes]
rs551806	0.82[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs552584	0.82[CEU][hapmap];0.81[GIH][hapmap];0.95[MEX][hapmap];0.82[AMR][1000 genomes]
rs553452	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs554711	0.82[AMR][1000 genomes]
rs561469	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs564265	0.82[CEU][hapmap];0.82[AMR][1000 genomes]
rs567021	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs567846	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs579458	0.82[AMR][1000 genomes]
rs6424998	0.95[ASN][1000 genomes]
rs737490	0.82[CEU][hapmap];0.80[MEX][hapmap]
rs971224	0.81[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	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185547400-185557200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:185554000-185554600	Enhancers	A549	lung
3	chr1:185554000-185556000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:185554400-185554600	Active TSS	Rectal Mucosa Donor 31	rectum

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