Variant report

Variant	rs596515
Chromosome Location	chr1:75758138-75758139
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75755636..75758198-chr1:75891029..75893003,2	K562	blood:
2	chr1:75756515..75758289-chr1:75759865..75761416,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10518500	0.86[CEU][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11162861	0.86[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11162872	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11162888	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs11806471	0.82[CEU][hapmap]
rs11809429	0.82[CEU][hapmap]
rs12057533	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12061094	0.88[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1249796	0.82[CEU][hapmap]
rs1249797	0.80[CEU][hapmap]
rs1249807	0.82[CEU][hapmap]
rs1443846	0.82[CEU][hapmap]
rs17096508	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs17096860	0.80[CEU][hapmap]
rs17096877	0.80[CEU][hapmap]
rs17584530	0.82[CEU][hapmap]
rs1778454	0.82[CEU][hapmap]
rs2083868	0.80[CEU][hapmap]
rs3845363	0.80[CEU][hapmap]
rs588628	0.87[EUR][1000 genomes]
rs588830	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs590301	1.00[CEU][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs596620	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs598649	0.94[CEU][hapmap];0.91[YRI][hapmap]
rs604745	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs617196	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs625357	1.00[CEU][hapmap]
rs629226	0.87[EUR][1000 genomes]
rs629615	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs632068	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs635184	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs636855	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs639028	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs642923	1.00[CEU][hapmap];0.91[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs646879	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs648869	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs663620	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs664268	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs664593	0.93[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs665545	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6657734	0.82[CEU][hapmap]
rs6676696	0.82[CEU][hapmap]
rs671533	0.94[CEU][hapmap];0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs671919	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs675962	1.00[CEU][hapmap]
rs681689	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs694025	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540751	0.84[EUR][1000 genomes]
rs7555803	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs596515	SLC44A5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75758000-75759200	Weak transcription	Fetal Heart	heart

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