Variant report

Variant	rs1258253
Chromosome Location	chr10:50940655-50940656
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs11101218	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1125165	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12265707	0.83[ASN][1000 genomes]
rs1258168	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1258169	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1258170	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1258176	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1258178	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1258179	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1258181	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1258182	0.86[EUR][1000 genomes]
rs1258184	0.86[EUR][1000 genomes]
rs1258228	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1258243	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1258245	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1258246	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1258247	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1258249	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258250	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258251	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1258252	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1258255	0.87[EUR][1000 genomes]
rs1258256	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1258258	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1258260	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1258323	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1258326	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1258329	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1258330	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1268722	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1268723	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1270562	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1271629	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13736	0.83[EUR][1000 genomes]
rs1625258	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1659305	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1992238	0.80[ASN][1000 genomes]
rs2083256	0.80[ASN][1000 genomes]
rs2377780	0.83[ASN][1000 genomes]
rs2889729	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4372365	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56948641	0.81[EUR][1000 genomes]
rs61846862	0.80[ASN][1000 genomes]
rs61846864	0.80[ASN][1000 genomes]
rs61846865	0.83[ASN][1000 genomes]
rs6537552	0.81[EUR][1000 genomes]
rs6816	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7069682	0.83[ASN][1000 genomes]
rs7100934	0.80[ASN][1000 genomes]
rs745836	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs745837	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs745838	0.85[AMR][1000 genomes];0.94[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	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv895378	chr10:50801342-50955649	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1048905	chr10:50928727-51019190	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50934800-50944000	Weak transcription	Brain Angular Gyrus	brain
2	chr10:50935200-50943000	Weak transcription	Brain Anterior Caudate	brain
3	chr10:50935200-50949600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr10:50935400-50943600	Weak transcription	Fetal Brain Female	brain
5	chr10:50939000-50941000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:50939000-50944200	Weak transcription	Pancreas	Pancrea
7	chr10:50939400-50943600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr10:50940000-50942800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr10:50940200-50943200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr10:50940400-50949600	Weak transcription	Fetal Heart	heart
11	chr10:50940400-50953400	Weak transcription	Brain Hippocampus Middle	brain
12	chr10:50940600-50966000	Strong transcription	Liver	Liver

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