Variant report

Variant	rs56192801
Chromosome Location	chr4:75195755-75195756
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:75090793..75093494-chr4:75193558..75196089,2	K562	blood:
2	chr4:75193547..75202304-chr4:75225099..75233434,18	K562	blood:
3	chr4:75193835..75196818-chr4:75546936..75549420,2	K562	blood:
4	chr4:75161899..75164379-chr4:75195063..75196891,2	K562	blood:
5	chr4:75192372..75204703-chr4:75227413..75239566,26	K562	blood:
6	chr4:75195012..75198024-chr4:75202040..75205774,3	K562	blood:

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1460005	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850793	1.00[EUR][1000 genomes]
rs16850798	1.00[EUR][1000 genomes]
rs16850813	1.00[EUR][1000 genomes]
rs16850818	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850842	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850845	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850847	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850852	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850933	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993664	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57516973	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58215609	1.00[EUR][1000 genomes]
rs58398242	1.00[EUR][1000 genomes]
rs59142088	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59172186	1.00[EUR][1000 genomes]
rs59175703	1.00[EUR][1000 genomes]
rs60181583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60560556	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61119489	1.00[EUR][1000 genomes]
rs6830535	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836879	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs725142	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824433	1.00[EUR][1000 genomes]
rs73824435	1.00[EUR][1000 genomes]
rs73824446	1.00[EUR][1000 genomes]
rs73824447	1.00[EUR][1000 genomes]
rs73824448	1.00[EUR][1000 genomes]
rs73824449	1.00[EUR][1000 genomes]
rs73824453	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824457	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824458	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824469	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922136	1.00[EUR][1000 genomes]
rs9685225	1.00[EUR][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	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	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75193200-75196800	Active TSS	K562	blood
2	chr4:75193800-75196600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr4:75194000-75196000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr4:75194400-75196000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr4:75194600-75195800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:75194600-75196000	Active TSS	Primary hematopoietic stem cells	blood
7	chr4:75194600-75209400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:75194800-75196000	Weak transcription	HMEC	breast
9	chr4:75195000-75209600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:75195400-75196200	ZNF genes & repeats	NHEK	skin
11	chr4:75195400-75196400	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin

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