Variant report

Variant	rs211744
Chromosome Location	chr1:76007232-76007233
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	chr1:75887927..75890320-chr1:76006872..76008474,2	K562	blood:

Extended variants
information (count: 48 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10493575	1.00[JPT][hapmap]
rs11578532	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs12401888	1.00[JPT][hapmap]
rs12401896	1.00[JPT][hapmap]
rs12405357	1.00[JPT][hapmap]
rs12408190	1.00[JPT][hapmap]
rs12410333	1.00[JPT][hapmap]
rs12411159	1.00[JPT][hapmap]
rs1443845	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs17303788	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs17303921	0.85[MEX][hapmap]
rs17584320	1.00[JPT][hapmap]
rs17644957	1.00[JPT][hapmap]
rs184159	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857353	1.00[JPT][hapmap]
rs1857354	1.00[JPT][hapmap]
rs190024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1913118	1.00[JPT][hapmap]
rs1930320	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1936359	1.00[JPT][hapmap]
rs2024773	1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2040079	1.00[JPT][hapmap]
rs2040082	1.00[JPT][hapmap]
rs211688	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs211702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs211703	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs211706	0.81[LWK][hapmap]
rs211747	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211751	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211752	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211759	0.81[CEU][hapmap];0.90[MEX][hapmap]
rs211762	0.81[CEU][hapmap];0.84[GIH][hapmap];0.90[MEX][hapmap]
rs211771	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211772	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs211774	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211775	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs211776	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779490	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs449394	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4540592	1.00[JPT][hapmap]
rs4949855	1.00[JPT][hapmap]
rs6662665	1.00[JPT][hapmap]
rs983331	1.00[JPT][hapmap]

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	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
2	esv3445096	chr1:75933216-76126980	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv2757737	chr1:75986904-76187748	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv2758943	chr1:75986904-76187748	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv830270	chr1:76002220-76033156	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs211744	SLC44A5	cis	cerebellum	SCAN
rs211744	IFI44	cis	parietal	SCAN

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76000000-76008600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr1:76004400-76007600	Enhancers	Fetal Intestine Small	intestine
3	chr1:76006200-76007800	Weak transcription	HUVEC	blood vessel
4	chr1:76007200-76008800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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