Variant report

Variant	rs2224290
Chromosome Location	chr20:14523712-14523713
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:35)

rs_ID	r²[population]
rs11908467	0.85[CEU][hapmap]
rs12479730	0.93[MEX][hapmap]
rs12479826	0.94[EUR][1000 genomes]
rs12480371	0.82[CEU][hapmap]
rs17191669	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17263855	0.82[CEU][hapmap]
rs1932938	0.82[CEU][hapmap];0.92[JPT][hapmap]
rs1932943	0.85[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap]
rs1932956	0.84[JPT][hapmap]
rs2024922	0.91[GIH][hapmap]
rs2038908	0.82[CEU][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap]
rs2145007	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs2208124	0.85[CEU][hapmap];0.92[CHB][hapmap];0.81[CHD][hapmap];0.93[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4141732	0.85[CEU][hapmap]
rs58141344	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs6033999	0.82[CEU][hapmap];0.85[GIH][hapmap];0.90[TSI][hapmap]
rs6042828	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs6042833	0.82[CEU][hapmap];0.86[GIH][hapmap]
rs6131590	0.85[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6131595	0.85[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap]
rs6135185	0.85[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap]
rs6135191	0.85[CEU][hapmap]
rs6135192	0.85[CEU][hapmap]
rs6135199	0.85[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap]
rs6135207	0.82[CEU][hapmap]
rs6135208	0.85[CEU][hapmap];0.88[GIH][hapmap];0.82[MEX][hapmap]
rs6135211	0.82[CEU][hapmap]
rs6135214	0.82[CEU][hapmap];0.85[GIH][hapmap];0.87[TSI][hapmap]
rs6135219	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs6135221	0.82[CEU][hapmap];0.90[TSI][hapmap]
rs7261811	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs73612367	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8116714	0.82[CEU][hapmap]
rs8119230	0.82[CEU][hapmap];0.84[JPT][hapmap]
rs8183523	0.82[CEU][hapmap];0.90[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055499	chr20:14224873-14848061	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv1064721	chr20:14384931-14648223	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv833926	chr20:14410153-14572336	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1059770	chr20:14432394-14549781	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv544187	chr20:14432394-14549781	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv529577	chr20:14434373-14799157	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1064008	chr20:14477895-14540691	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv1060786	chr20:14486713-14648467	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv544188	chr20:14486713-14648467	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv912690	chr20:14488761-14553745	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv1060985	chr20:14488785-14759939	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv912691	chr20:14495489-14536808	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1060291	chr20:14498526-14578899	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv458874	chr20:14509449-14553745	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv585446	chr20:14509449-14553745	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv1057540	chr20:14510033-14598427	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv1061504	chr20:14518364-14565721	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
18	nsv1059579	chr20:14518849-14941319	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14519200-14523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14523000-14529600	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links