Variant report

Variant	rs538775
Chromosome Location	chr4:75013441-75013442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:74999598..75001723-chr4:75011238..75014051,2	K562	blood:
2	chr4:75011899..75013611-chr4:75013852..75015678,2	K562	blood:
3	chr4:75010641..75013526-chr4:75028499..75030027,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10008940	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10026869	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs12163831	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12646785	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[GIH][hapmap];0.83[EUR][1000 genomes]
rs1265346	0.85[EUR][1000 genomes]
rs13116686	0.83[EUR][1000 genomes]
rs13136363	1.00[CEU][hapmap];0.83[CHB][hapmap];0.80[GIH][hapmap];0.95[EUR][1000 genomes]
rs1440404	0.80[MEX][hapmap]
rs1440407	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[EUR][1000 genomes]
rs16850531	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16850541	0.89[EUR][1000 genomes]
rs2289443	1.00[CEU][hapmap];0.92[CHB][hapmap];0.84[CHD][hapmap];0.92[GIH][hapmap];0.88[MEX][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28823933	0.83[EUR][1000 genomes]
rs4694183	1.00[CEU][hapmap];0.82[CHB][hapmap];0.91[GIH][hapmap];0.83[EUR][1000 genomes]
rs479409	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[EUR][1000 genomes]
rs510884	1.00[CEU][hapmap];0.83[CHB][hapmap];0.96[GIH][hapmap];0.83[EUR][1000 genomes]
rs518475	1.00[CEU][hapmap];0.91[CHB][hapmap];0.89[EUR][1000 genomes]
rs519014	1.00[CEU][hapmap];0.86[CHB][hapmap];0.89[EUR][1000 genomes]
rs533352	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[GIH][hapmap];0.89[EUR][1000 genomes]
rs537061	1.00[CEU][hapmap];0.92[CHB][hapmap];0.96[GIH][hapmap];0.89[EUR][1000 genomes]
rs538542	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs542458	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs547975	1.00[CEU][hapmap];0.92[CHB][hapmap];0.89[EUR][1000 genomes]
rs551906	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes]
rs555728	1.00[JPT][hapmap]
rs564793	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs6446975	0.92[CHB][hapmap];0.81[EUR][1000 genomes]
rs6446976	1.00[CEU][hapmap];0.92[CHB][hapmap];0.91[GIH][hapmap];0.83[EUR][1000 genomes]
rs6824352	1.00[CEU][hapmap];0.82[CHD][hapmap];0.87[GIH][hapmap];0.90[EUR][1000 genomes]
rs7689706	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs977597	0.83[EUR][1000 genomes]
rs977598	1.00[CEU][hapmap];0.92[CHB][hapmap];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75004400-75013800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:75011800-75022000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr4:75013200-75014000	Strong transcription	HMEC	breast
4	chr4:75013200-75023200	Weak transcription	Psoas Muscle	Psoas
5	chr4:75013400-75013600	Strong transcription	NHEK	skin

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