Variant report

Variant	rs645513
Chromosome Location	chr1:75739111-75739112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10493564	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10493565	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10493566	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782715	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162847	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162849	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162856	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162870	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162873	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162878	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11162880	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12095168	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12562352	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12568950	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12568990	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1335735	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1415460	0.92[EUR][1000 genomes]
rs1415461	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1505260	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1505261	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1505262	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1505263	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096462	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2135143	0.82[ASN][1000 genomes]
rs2221459	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34755141	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4369182	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5006253	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57612788	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs587346	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs587787	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs588098	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs596098	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs598609	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60198223	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs611309	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs619193	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs619696	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs637660	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs638302	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs646879	0.83[ASN][1000 genomes]
rs647924	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs648363	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs649352	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs665575	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs666397	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs667887	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs669806	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs679018	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs681866	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544408	0.82[ASN][1000 genomes]
rs976048	0.94[EUR][1000 genomes];0.92[ASN][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	esv3368999	chr1:75524762-75933220	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv997508	chr1:75709664-75748920	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1013952	chr1:75716654-75936048	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv535004	chr1:75716654-75936048	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3451301	chr1:75722980-75744683	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs645513	SLC44A5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75737800-75743000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:75738400-75740800	Enhancers	K562	blood
3	chr1:75738600-75739200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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