Variant report

Variant	rs1328448
Chromosome Location	chr1:78832137-78832138
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10782664	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10782665	0.90[CHB][hapmap];0.83[CHD][hapmap];0.86[GIH][hapmap];0.81[JPT][hapmap]
rs10873979	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10873980	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10873983	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10873985	0.81[CHB][hapmap]
rs11162477	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11162478	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11162479	0.91[CEU][hapmap];0.91[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11162488	0.82[CEU][hapmap];0.94[CHB][hapmap]
rs11162490	0.85[CEU][hapmap];1.00[CHB][hapmap]
rs11162492	0.86[CHB][hapmap]
rs1156031	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12049259	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs12080346	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12122274	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs12132664	0.91[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.88[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12141234	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12717769	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12733301	0.84[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12740373	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12742293	1.00[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.89[MEX][hapmap];0.84[TSI][hapmap]
rs12752083	0.82[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12756296	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1328447	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1332254	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1333069	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1333070	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1333071	0.89[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1571366	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.90[EUR][1000 genomes]
rs1581749	0.90[CHB][hapmap];0.81[JPT][hapmap]
rs1831168	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap]
rs1929982	0.82[CEU][hapmap];0.95[CHB][hapmap]
rs2208897	0.95[CHB][hapmap];0.83[CHD][hapmap];0.85[JPT][hapmap]
rs2224674	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs2990698	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs4587523	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4650348	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs473910	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs490938	0.91[CEU][hapmap];0.95[CHB][hapmap];0.84[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.91[TSI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs494981	0.82[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.95[JPT][hapmap];0.94[MEX][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs521636	0.91[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs523464	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs525351	0.85[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs538855	0.87[CEU][hapmap];0.91[CHB][hapmap];0.81[CHD][hapmap];0.90[JPT][hapmap];0.95[MEX][hapmap];0.84[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs540903	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs551514	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs555475	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs571456	1.00[CHB][hapmap]
rs583964	0.82[CEU][hapmap];0.95[CHB][hapmap];0.81[CHD][hapmap];0.95[MEX][hapmap]
rs587996	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs595489	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs604097	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs626063	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs631280	0.82[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap]
rs632184	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap];0.81[TSI][hapmap]
rs646012	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[JPT][hapmap];0.95[MEX][hapmap]
rs651313	0.88[EUR][1000 genomes]
rs663934	0.88[EUR][1000 genomes]
rs6678699	0.86[CHB][hapmap];0.81[JPT][hapmap]
rs689294	0.89[EUR][1000 genomes]
rs7535841	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7541577	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs789283	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[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:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78810200-78833200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:78830000-78832800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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