Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr1:75865739-75865873	K562	blood:	n/a	n/a

Variant related genes	Relation type
SLC44A5	TF binding region

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1036950	0.88[CHB][hapmap];0.84[CHD][hapmap];0.89[ASN][1000 genomes]
rs10747387	0.82[CHB][hapmap]
rs10874264	0.87[ASN][1000 genomes]
rs1107148	0.82[CHB][hapmap]
rs1116878	0.82[CHB][hapmap]
rs12402118	0.80[CHB][hapmap]
rs1249784	0.82[CHB][hapmap]
rs1249786	0.82[CHB][hapmap];0.84[CHD][hapmap]
rs1249794	0.86[CHB][hapmap]
rs1343520	1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096860	0.83[CHD][hapmap]
rs17096877	0.83[CHD][hapmap]
rs1778459	0.84[CHB][hapmap]
rs1858627	0.82[CHB][hapmap];0.85[CHD][hapmap]
rs1858628	0.88[CHB][hapmap]
rs1891902	0.80[CHB][hapmap]
rs1936358	0.88[CHB][hapmap];0.88[CHD][hapmap];0.87[ASN][1000 genomes]
rs2083868	0.83[CHD][hapmap]
rs2347214	0.87[CHB][hapmap];0.88[CHD][hapmap];0.88[ASN][1000 genomes]
rs2587042	0.82[CHB][hapmap];0.85[CHD][hapmap];0.81[JPT][hapmap]
rs2972005	0.87[CHB][hapmap]
rs3845363	0.83[CHD][hapmap]
rs6675276	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1343519	SLC44A5	cis	Muscle Skeletal	GTEx
rs1343519	SLC44A5	cis	normal skin	skin_eQTL
rs1343519	SLC44A5	cis	Thyroid	GTEx

Chromatin state (count:0 , 50 per page) page:

No data

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