Variant report

Variant	rs57107916
Chromosome Location	chr4:86605233-86605234
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	chr4:86599190..86601552-chr4:86603029..86605951,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2624017	1.00[AMR][1000 genomes]
rs55683461	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55808941	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55954286	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59598592	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59862953	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60488187	1.00[AMR][1000 genomes]
rs60808482	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60845185	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61177258	1.00[AMR][1000 genomes]
rs73833234	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833236	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833238	1.00[AMR][1000 genomes]
rs73833240	1.00[AMR][1000 genomes]
rs73833241	1.00[AMR][1000 genomes]
rs73833243	1.00[AMR][1000 genomes]
rs73833244	1.00[AMR][1000 genomes]
rs73833245	1.00[AMR][1000 genomes]
rs73833246	1.00[AMR][1000 genomes]
rs73833405	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833407	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73833879	1.00[AMR][1000 genomes]
rs73833939	1.00[AMR][1000 genomes]
rs73835536	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835544	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835547	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73835549	1.00[AMR][1000 genomes]
rs7656891	1.00[AMR][1000 genomes]

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	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	esv3450999	chr4:86485840-86773745	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
5	nsv829999	chr4:86500257-86666019	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	2 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	chr4:86591400-86619400	Weak transcription	Pancreas	Pancrea
2	chr4:86597400-86609000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr4:86603800-86606600	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:86603800-86607000	Weak transcription	Primary B cells from cord blood	blood
5	chr4:86603800-86617800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:86603800-86617800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr4:86603800-86617800	Weak transcription	NHDF-Ad	bronchial
8	chr4:86604200-86624000	Weak transcription	HSMM	muscle
9	chr4:86604600-86609000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr4:86604600-86617600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr4:86605000-86607000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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