Variant report

Variant	rs333711
Chromosome Location	chr1:185561895-185561896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10047200	0.83[ASN][1000 genomes]
rs11605	0.95[MEX][hapmap]
rs12043649	0.83[ASN][1000 genomes]
rs1321986	0.85[ASN][1000 genomes]
rs1321987	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1321988	0.85[ASN][1000 genomes]
rs1407270	0.81[ASN][1000 genomes]
rs1407272	0.83[ASN][1000 genomes]
rs1553486	0.82[ASN][1000 genomes]
rs168004	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16824258	0.83[ASN][1000 genomes]
rs186732	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs193088	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2383328	0.83[ASN][1000 genomes]
rs2383329	0.82[ASN][1000 genomes]
rs2756198	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2756199	0.95[MEX][hapmap]
rs2756206	0.95[MEX][hapmap]
rs2756209	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2756212	0.82[EUR][1000 genomes]
rs2821435	0.95[MEX][hapmap]
rs2821436	0.96[CEU][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2842580	0.82[CEU][hapmap];1.00[MEX][hapmap]
rs2842591	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333705	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333706	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs333707	0.82[ASN][1000 genomes]
rs333708	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs333709	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs333710	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs333712	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333713	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs333718	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs333724	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333726	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs333728	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4233122	0.92[ASN][1000 genomes]
rs4233124	0.83[ASN][1000 genomes]
rs4344284	0.89[JPT][hapmap]
rs4393107	0.83[ASN][1000 genomes]
rs4424453	0.83[ASN][1000 genomes]
rs4424454	0.83[ASN][1000 genomes]
rs4430287	0.83[ASN][1000 genomes]
rs4430288	0.83[ASN][1000 genomes]
rs4523487	0.83[ASN][1000 genomes]
rs486969	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492436	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494700	0.83[EUR][1000 genomes]
rs495416	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs498961	0.82[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs5001199	0.83[ASN][1000 genomes]
rs506429	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs507076	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs516040	1.00[CEU][hapmap];0.89[CHB][hapmap];0.93[CHD][hapmap];0.98[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs518472	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs521481	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs522048	0.81[AMR][1000 genomes]
rs531472	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs534817	0.85[EUR][1000 genomes]
rs545105	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs551806	0.82[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs552584	0.82[CEU][hapmap];0.81[GIH][hapmap];1.00[MEX][hapmap]
rs553452	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs561469	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs564265	0.82[CEU][hapmap]
rs567021	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs567846	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56918739	0.83[ASN][1000 genomes]
rs6424996	0.83[ASN][1000 genomes]
rs6424997	0.83[ASN][1000 genomes]
rs6424998	0.92[ASN][1000 genomes]
rs6665025	0.83[ASN][1000 genomes]
rs737490	0.82[CEU][hapmap];0.85[MEX][hapmap]
rs7532978	0.83[ASN][1000 genomes]
rs905700	0.83[ASN][1000 genomes]
rs905701	0.83[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:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185556000-185563200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:185561800-185562000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:185561800-185562000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr1:185561800-185562000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr1:185561800-185562400	Enhancers	NHEK	skin
6	chr1:185561800-185565200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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