Variant report

Variant	rs12239193
Chromosome Location	chr1:186612386-186612387
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10911899	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11802553	0.86[EUR][1000 genomes]
rs11811047	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12239058	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12732584	0.83[EUR][1000 genomes]
rs12734267	0.86[EUR][1000 genomes]
rs12734420	0.86[EUR][1000 genomes]
rs12747806	0.81[AMR][1000 genomes]
rs16825639	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16825646	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16825671	0.86[EUR][1000 genomes]
rs16825681	0.86[EUR][1000 genomes]
rs16825687	0.86[EUR][1000 genomes]
rs1883651	0.86[EUR][1000 genomes]
rs1883652	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2891250	0.87[EUR][1000 genomes]
rs34365031	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34770837	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35084661	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35483551	0.83[EUR][1000 genomes]
rs4511065	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71634178	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71634179	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71634186	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv832059	chr1:186464932-186639125	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762854	chr1:186547101-186847574	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv872590	chr1:186557453-187500338	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186602600-186614200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links