Variant report

Variant	rs2125987
Chromosome Location	chr18:28988724-28988725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10163755	0.90[CEU][hapmap];0.96[EUR][1000 genomes]
rs1020838	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10775448	0.90[CEU][hapmap];0.85[GIH][hapmap];0.93[EUR][1000 genomes]
rs11876192	0.92[EUR][1000 genomes]
rs12607068	0.94[EUR][1000 genomes]
rs1350729	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs1350730	0.94[EUR][1000 genomes]
rs1460594	0.90[CEU][hapmap];0.85[GIH][hapmap];0.93[EUR][1000 genomes]
rs1460596	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs1460597	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs16959856	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs16959863	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs1813419	0.95[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs1841393	0.93[EUR][1000 genomes]
rs1941190	0.86[ASW][hapmap];0.95[CEU][hapmap];0.87[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs3842955	0.90[CEU][hapmap];0.85[GIH][hapmap];0.93[EUR][1000 genomes]
rs3859362	0.95[CEU][hapmap]
rs3899889	0.94[EUR][1000 genomes]
rs4799569	0.95[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs62095179	0.93[EUR][1000 genomes]
rs6506920	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7233718	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs8084577	0.94[EUR][1000 genomes]
rs8086756	0.94[EUR][1000 genomes]
rs8092320	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]
rs8099619	0.95[CEU][hapmap];0.85[GIH][hapmap];0.88[TSI][hapmap]
rs922184	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs9304093	0.94[EUR][1000 genomes]
rs9304095	0.90[CEU][hapmap];0.92[EUR][1000 genomes]
rs984526	0.94[EUR][1000 genomes]
rs9951411	0.95[CEU][hapmap];0.94[EUR][1000 genomes]
rs9956865	0.95[CEU][hapmap];0.85[GIH][hapmap];0.86[MEX][hapmap];0.88[TSI][hapmap];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066692	chr18:28856066-29190505	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543674	chr18:28856066-29190505	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv916545	chr18:28898800-29166364	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv909517	chr18:28956904-29018114	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1060592	chr18:28965770-29042332	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1059676	chr18:28965770-29049614	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv869902	chr18:28967184-29053244	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv524890	chr18:28967410-29056465	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv576630	chr18:28969044-29049018	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv576631	chr18:28969044-29051677	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv458045	chr18:28969044-29056465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv576632	chr18:28969044-29056465	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	esv2751776	chr18:28970147-29057719	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv576633	chr18:28972363-29038123	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv576634	chr18:28972363-29049018	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1065809	chr18:28974612-29035411	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv1065570	chr18:28974612-29049614	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv1058214	chr18:28974612-29053891	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv1062970	chr18:28976790-29049614	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
20	nsv1056726	chr18:28978180-29049614	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
21	nsv1061071	chr18:28979237-29048429	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:28973600-28989400	Weak transcription	Esophagus	oesophagus
2	chr18:28988200-29005400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:28988400-28999200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links