Variant report

Variant	rs1483538
Chromosome Location	chr8:54766847-54766848
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	chr8:54754073..54756825-chr8:54765433..54767534,2	K562	blood:
2	chr8:54754073..54757431-chr8:54763114..54767534,4	K562	blood:

Variant related genes	Relation type
ENSG00000047249	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1004228	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10504158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11985729	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1384797	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.82[YRI][hapmap];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483539	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1483540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1483542	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16919513	1.00[TSI][hapmap]
rs16919526	1.00[TSI][hapmap]
rs16919566	1.00[TSI][hapmap]
rs16919597	1.00[TSI][hapmap]
rs16919616	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1842982	0.95[ASN][1000 genomes]
rs1842983	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1842984	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2062226	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs2306584	0.84[EUR][1000 genomes]
rs2306585	0.83[ASN][1000 genomes]
rs3824121	1.00[CEU][hapmap]
rs41360051	1.00[TSI][hapmap]
rs4518622	0.93[ASN][1000 genomes]
rs57546155	0.96[ASN][1000 genomes]
rs57553178	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58652215	0.88[ASN][1000 genomes]
rs60696924	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60819522	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61194604	0.87[ASN][1000 genomes]
rs61231337	0.82[ASN][1000 genomes]
rs61433056	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6473894	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6994332	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6997050	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6998532	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7016171	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017291	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7017967	0.93[ASN][1000 genomes]
rs73680325	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73680341	0.95[ASN][1000 genomes]
rs73680342	0.93[ASN][1000 genomes]
rs73680346	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7827611	0.83[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7831399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7846259	1.00[CEU][hapmap];0.97[GIH][hapmap];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021775	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv539621	chr8:54631303-54827173	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54759200-54780200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:54760800-54768000	Weak transcription	GM12878-XiMat	blood
3	chr8:54764800-54768000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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