Variant report

Variant	rs12740373
Chromosome Location	chr1:78842543-78842544
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:78842532-78842564	GM13977	blood:	n/a	n/a
2	CTCF	chr1:78842420-78842570	NHDF-neo	bronchial:	n/a	n/a

Variant related genes	Relation type
RNA5SP23	TF binding region

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10782664	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873979	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873980	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10873983	0.81[EUR][1000 genomes]
rs10873984	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11162477	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162478	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11162479	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11162488	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11162489	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11162490	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1156031	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12049259	0.86[EUR][1000 genomes]
rs12080346	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12128334	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12132664	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12141234	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12717769	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12733301	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12752083	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12756296	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1328447	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1328448	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1333069	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1333070	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1333071	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1571366	0.80[EUR][1000 genomes]
rs1929982	0.88[EUR][1000 genomes]
rs2224674	0.88[EUR][1000 genomes]
rs2990698	0.86[EUR][1000 genomes]
rs4587523	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650348	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs473910	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs482493	0.88[EUR][1000 genomes]
rs490938	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs494981	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs508404	0.81[ASN][1000 genomes]
rs521636	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs523464	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs525351	0.85[EUR][1000 genomes]
rs537086	0.86[EUR][1000 genomes]
rs538855	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs540903	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs551514	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs555475	0.90[EUR][1000 genomes]
rs571456	0.90[EUR][1000 genomes]
rs583964	0.90[EUR][1000 genomes]
rs585795	0.90[EUR][1000 genomes]
rs587996	0.88[EUR][1000 genomes]
rs591889	0.88[EUR][1000 genomes]
rs595489	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs604097	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs626063	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs631280	0.88[EUR][1000 genomes]
rs632184	0.88[EUR][1000 genomes]
rs639594	0.87[EUR][1000 genomes]
rs646012	0.88[EUR][1000 genomes]
rs648572	0.88[EUR][1000 genomes]
rs663934	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs678443	0.90[EUR][1000 genomes]
rs689294	0.80[EUR][1000 genomes]
rs7535841	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7541577	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs789283	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv482697	chr1:78786028-78935333	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78841200-78842600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:78841200-78842600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:78841400-78842600	Enhancers	Brain Germinal Matrix	brain
4	chr1:78842000-78842600	Enhancers	NHDF-Ad	bronchial
5	chr1:78842200-78843000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:78842400-78842600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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