Variant report

Variant	rs1543675
Chromosome Location	chr1:78946879-78946880
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10443177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10489785	0.86[JPT][hapmap]
rs10782665	0.88[CEU][hapmap];0.91[JPT][hapmap]
rs10873980	0.85[MEX][hapmap]
rs10873985	0.88[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.85[MEX][hapmap];0.85[ASN][1000 genomes]
rs11162477	0.81[JPT][hapmap]
rs11162479	0.85[MEX][hapmap]
rs11162488	0.95[JPT][hapmap]
rs11162490	0.95[JPT][hapmap]
rs11162492	0.96[CEU][hapmap];0.81[CHB][hapmap];0.92[GIH][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.85[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11162493	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12024476	0.94[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12049259	0.91[JPT][hapmap]
rs12073895	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12132664	0.85[MEX][hapmap]
rs12733301	0.80[JPT][hapmap]
rs12742293	0.85[MEX][hapmap]
rs1332254	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs1571366	0.91[JPT][hapmap]
rs1576806	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1581749	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs1590313	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1929982	0.95[JPT][hapmap]
rs2208897	0.90[JPT][hapmap]
rs2224674	0.91[JPT][hapmap]
rs2990698	0.91[JPT][hapmap]
rs4650548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4650549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs490938	0.81[JPT][hapmap]
rs521636	0.81[JPT][hapmap]
rs523464	0.81[JPT][hapmap]
rs525351	0.91[JPT][hapmap]
rs538855	0.81[JPT][hapmap]
rs555475	0.91[JPT][hapmap]
rs571456	0.86[JPT][hapmap]
rs583964	0.85[JPT][hapmap]
rs587996	0.91[JPT][hapmap]
rs631280	0.91[JPT][hapmap]
rs632184	0.91[JPT][hapmap]
rs646012	0.91[JPT][hapmap]
rs6678699	0.88[CEU][hapmap];0.90[JPT][hapmap]
rs7417327	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[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	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 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	chr1:78937400-78949600	Weak transcription	Fetal Muscle Leg	muscle

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