Variant report

Variant	rs671533
Chromosome Location	chr1:75731287-75731288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:75730735..75733136-chr1:75734426..75736968,2	K562	blood:
2	chr1:75731173..75731698-chr1:76097693..76098339,2	MCF-7	breast:
3	chr1:75731104..75731714-chr1:76048302..76048818,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10493564	0.84[ASN][1000 genomes]
rs10493565	0.84[ASN][1000 genomes]
rs10493566	0.84[ASN][1000 genomes]
rs10518500	0.81[CEU][hapmap]
rs10782715	0.84[ASN][1000 genomes]
rs11162847	0.84[ASN][1000 genomes]
rs11162849	0.84[ASN][1000 genomes]
rs11162856	0.84[ASN][1000 genomes]
rs11162861	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162870	0.84[ASN][1000 genomes]
rs11162872	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162873	0.84[ASN][1000 genomes]
rs11162878	0.84[ASN][1000 genomes]
rs11162880	0.84[ASN][1000 genomes]
rs11162888	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057533	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061094	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095168	0.84[ASN][1000 genomes]
rs12562352	0.84[ASN][1000 genomes]
rs12568950	0.84[ASN][1000 genomes]
rs12568990	0.84[ASN][1000 genomes]
rs1335735	0.84[ASN][1000 genomes]
rs1415461	0.84[ASN][1000 genomes]
rs1505260	0.84[ASN][1000 genomes]
rs1505261	0.84[ASN][1000 genomes]
rs1505262	0.84[ASN][1000 genomes]
rs1505263	0.84[ASN][1000 genomes]
rs17096462	0.84[ASN][1000 genomes]
rs17096508	0.93[CEU][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2221459	0.84[ASN][1000 genomes]
rs34755141	0.84[ASN][1000 genomes]
rs4369182	0.84[ASN][1000 genomes]
rs5006253	0.84[ASN][1000 genomes]
rs57612788	0.84[ASN][1000 genomes]
rs587346	0.84[ASN][1000 genomes]
rs587787	0.84[ASN][1000 genomes]
rs588098	0.84[ASN][1000 genomes]
rs588628	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588830	0.94[CEU][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs590301	0.94[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596098	0.84[ASN][1000 genomes]
rs596515	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs596620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598609	0.84[ASN][1000 genomes]
rs598649	0.89[CEU][hapmap]
rs60198223	0.84[ASN][1000 genomes]
rs604745	0.94[CEU][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611309	0.84[ASN][1000 genomes]
rs617196	0.94[CEU][hapmap]
rs619193	0.84[ASN][1000 genomes]
rs625357	0.94[CEU][hapmap]
rs629226	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629615	0.94[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632068	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs635184	0.94[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs637660	0.84[ASN][1000 genomes]
rs638302	0.84[ASN][1000 genomes]
rs639028	0.94[CEU][hapmap]
rs642923	0.94[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs646879	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs647924	0.84[ASN][1000 genomes]
rs648363	0.84[ASN][1000 genomes]
rs648869	0.94[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649352	0.84[ASN][1000 genomes]
rs663620	0.94[CEU][hapmap]
rs664268	0.94[CEU][hapmap]
rs664593	0.87[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665545	0.93[CEU][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665575	0.84[ASN][1000 genomes]
rs666397	0.84[ASN][1000 genomes]
rs667887	0.84[ASN][1000 genomes]
rs669806	0.84[ASN][1000 genomes]
rs671919	0.87[CEU][hapmap]
rs675962	0.94[CEU][hapmap]
rs681689	0.94[CEU][hapmap]
rs694025	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7540751	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7555803	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976048	0.84[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs671533	SLC44A5	Cis_1M	lymphoblastoid	RTeQTL
rs671533	SLC44A5	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75730600-75732200	Enhancers	HepG2	liver

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