Variant report

Variant	rs1443846
Chromosome Location	chr1:75877102-75877103
allele	A/G
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]
rs10518500	0.94[CEU][hapmap]
rs11163461	0.82[JPT][hapmap]
rs11163490	0.83[JPT][hapmap]
rs11163493	0.82[JPT][hapmap]
rs11163496	0.83[JPT][hapmap]
rs11804097	0.84[JPT][hapmap]
rs11806471	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11809429	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs11811008	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1249777	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1249783	0.89[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1249794	0.85[CHB][hapmap]
rs1249796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1249797	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1249807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1249823	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1332791	0.84[CHB][hapmap]
rs17096508	0.80[CEU][hapmap]
rs17096860	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17096877	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs17097049	0.84[CHB][hapmap]
rs17584530	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs1778454	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap]
rs1778459	0.83[CHB][hapmap];0.87[ASN][1000 genomes]
rs1891902	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs2083868	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap]
rs2347215	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2347217	1.00[CHB][hapmap]
rs2972005	0.86[CHB][hapmap];0.87[ASN][1000 genomes]
rs3845363	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs588830	0.81[CEU][hapmap]
rs590301	0.83[CEU][hapmap]
rs596515	0.82[CEU][hapmap]
rs598649	0.89[CEU][hapmap]
rs604745	0.82[CEU][hapmap]
rs617196	0.81[CEU][hapmap]
rs625357	0.83[CEU][hapmap]
rs629615	0.81[CEU][hapmap]
rs635184	0.81[CEU][hapmap]
rs639028	0.82[CEU][hapmap]
rs642923	0.83[CEU][hapmap]
rs648869	0.81[CEU][hapmap]
rs663620	0.81[CEU][hapmap]
rs664268	0.81[CEU][hapmap]
rs665545	0.87[CEU][hapmap]
rs6657734	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap]
rs6676696	1.00[CEU][hapmap];0.93[CHB][hapmap];0.91[JPT][hapmap]
rs671919	0.87[CEU][hapmap]
rs675962	0.82[CEU][hapmap]
rs681689	0.81[CEU][hapmap]
rs694025	0.81[CEU][hapmap]
rs74089241	0.81[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	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
4	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv3441748	chr1:75866980-75890018	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1443846	SLC44A5	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75877000-75878000	Weak transcription	K562	blood

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