Variant report

Variant	rs642923
Chromosome Location	chr1:75733111-75733112
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75730735..75733136-chr1:75734426..75736968,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs10493564	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10493565	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10493566	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10518500	0.87[CEU][hapmap]
rs10782715	1.00[JPT][hapmap];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];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162870	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11162872	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162873	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11162878	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11162880	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs11162888	1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806471	0.83[CEU][hapmap]
rs11809429	0.83[CEU][hapmap]
rs12057533	1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061094	1.00[JPT][hapmap];0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12095168	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1249796	0.83[CEU][hapmap]
rs1249797	0.81[CEU][hapmap]
rs1249807	0.83[CEU][hapmap]
rs12562352	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs12568950	0.84[ASN][1000 genomes]
rs12568990	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1335735	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1415461	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1443846	0.83[CEU][hapmap]
rs1505260	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1505261	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1505262	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs1505263	0.84[ASN][1000 genomes]
rs17096462	0.84[ASN][1000 genomes]
rs17096508	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17096860	0.81[CEU][hapmap]
rs17096877	0.81[CEU][hapmap]
rs17584530	0.83[CEU][hapmap]
rs1778454	0.83[CEU][hapmap]
rs1856128	1.00[JPT][hapmap]
rs2083868	0.81[CEU][hapmap]
rs2221459	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs34755141	0.84[ASN][1000 genomes]
rs3845363	0.81[CEU][hapmap]
rs4369182	0.84[ASN][1000 genomes]
rs5006253	0.84[ASN][1000 genomes]
rs57612788	0.84[ASN][1000 genomes]
rs587346	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs587787	0.84[ASN][1000 genomes]
rs588098	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs588628	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs588830	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs590301	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596098	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs596515	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs596620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs598609	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs598649	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs60198223	0.84[ASN][1000 genomes]
rs604745	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs611309	0.84[ASN][1000 genomes]
rs616827	1.00[JPT][hapmap]
rs617196	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs619193	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs625357	1.00[CEU][hapmap]
rs629226	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629615	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs632068	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs635184	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs636855	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs637660	0.84[ASN][1000 genomes]
rs638302	0.84[ASN][1000 genomes]
rs639028	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs646879	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs647924	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs648363	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs648869	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs649352	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs663620	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs664268	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs664593	0.94[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665545	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs665575	0.84[ASN][1000 genomes]
rs6657734	0.83[CEU][hapmap]
rs666397	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6676696	0.83[CEU][hapmap]
rs667887	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs669806	0.84[ASN][1000 genomes]
rs671533	0.94[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671919	0.94[CEU][hapmap];1.00[YRI][hapmap]
rs675962	1.00[CEU][hapmap]
rs679018	1.00[JPT][hapmap]
rs681689	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs681866	1.00[JPT][hapmap]
rs694025	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7540751	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7544408	1.00[JPT][hapmap]
rs7555803	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7556057	1.00[JPT][hapmap]
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
rs642923	SLC44A5	Cis_1M	lymphoblastoid	RTeQTL
rs642923	SLC44A5	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75732800-75737200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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