Variant report

Variant	rs12050350
Chromosome Location	chr14:81417771-81417772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10135774	0.81[ASN][1000 genomes]
rs10146348	0.81[ASN][1000 genomes]
rs10149689	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs11845052	0.86[EUR][1000 genomes]
rs11850464	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12050077	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs12050078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12050278	0.89[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs17544072	0.81[ASN][1000 genomes]
rs17544968	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17545038	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17615911	0.81[ASN][1000 genomes]
rs17615941	0.81[ASN][1000 genomes]
rs17626988	0.81[ASN][1000 genomes]
rs179243	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs179245	0.93[ASN][1000 genomes]
rs179249	0.81[ASN][1000 genomes]
rs179251	0.81[ASN][1000 genomes]
rs1990597	0.80[EUR][1000 genomes]
rs2024427	0.95[CEU][hapmap];0.88[CHB][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2110696	0.94[CHB][hapmap]
rs2114705	0.89[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2195103	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2217177	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2217178	0.89[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2239610	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2268451	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs2268452	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2268457	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2268458	0.95[CEU][hapmap];0.82[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2268460	0.83[CEU][hapmap];0.83[CHB][hapmap];0.82[JPT][hapmap]
rs2284718	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2284719	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2284720	0.94[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2284722	0.87[CHB][hapmap];0.81[JPT][hapmap]
rs2284727	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3783945	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs3783951	0.88[CHB][hapmap]
rs4903955	0.81[ASN][1000 genomes]
rs4903957	0.87[CHB][hapmap]
rs4903958	0.87[CHB][hapmap]
rs5002906	0.88[CHB][hapmap]
rs55751898	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55945219	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59431750	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs59711583	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7154269	0.89[CHB][hapmap];0.81[ASN][1000 genomes]
rs724169	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs726018	0.92[ASN][1000 genomes]
rs726020	1.00[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs72693053	0.91[ASN][1000 genomes]
rs72693057	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72693075	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72693078	0.96[EUR][1000 genomes]
rs72693080	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72693090	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72693093	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72693096	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs74064796	0.96[EUR][1000 genomes]
rs8012343	0.81[ASN][1000 genomes]
rs8022600	0.88[CHB][hapmap]

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	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
5	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81408800-81421000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:81410200-81420000	Weak transcription	Dnd41	blood
3	chr14:81412600-81421000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:81415000-81421000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:81415600-81421000	Weak transcription	NHEK	skin
6	chr14:81415600-81421200	Weak transcription	Gastric	stomach
7	chr14:81415600-81421400	Weak transcription	Placenta	Placenta
8	chr14:81415800-81421000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr14:81415800-81421000	Weak transcription	Thymus	Thymus
10	chr14:81415800-81421000	Weak transcription	HMEC	breast
11	chr14:81416800-81421000	Weak transcription	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links