Variant report

Variant	rs28416247
Chromosome Location	chr4:86524271-86524272
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:86521874..86524403-chr4:86535042..86537476,2	K562	blood:
2	chr4:86497689..86499255-chr4:86523106..86525131,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10003508	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10003616	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10006491	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10009042	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10009686	1.00[AMR][1000 genomes]
rs10015628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10016029	1.00[AMR][1000 genomes]
rs10016153	1.00[AMR][1000 genomes]
rs10020940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10023579	1.00[AMR][1000 genomes]
rs10030914	1.00[AMR][1000 genomes]
rs10031920	1.00[AMR][1000 genomes]
rs10033604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13434500	1.00[AMR][1000 genomes]
rs13435619	1.00[AMR][1000 genomes]
rs28380594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28385277	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28385531	1.00[AMR][1000 genomes]
rs28404254	1.00[AMR][1000 genomes]
rs28417307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28446374	1.00[AMR][1000 genomes]
rs28463959	1.00[AMR][1000 genomes]
rs28483739	1.00[AMR][1000 genomes]
rs28493605	1.00[AMR][1000 genomes]
rs28542843	1.00[AMR][1000 genomes]
rs28556771	1.00[AMR][1000 genomes]
rs28568576	1.00[AMR][1000 genomes]
rs28585433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28607329	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28618270	1.00[AMR][1000 genomes]
rs28645081	1.00[AMR][1000 genomes]
rs28652904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28663637	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28671522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28694328	0.92[AFR][1000 genomes]
rs28708671	1.00[AMR][1000 genomes]
rs28733613	1.00[AMR][1000 genomes]
rs72976713	1.00[AMR][1000 genomes]
rs72976727	1.00[AMR][1000 genomes]
rs9996146	1.00[AMR][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	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86517800-86542200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr4:86518000-86524400	Weak transcription	HSMM	muscle
3	chr4:86518600-86524800	Weak transcription	Fetal Heart	heart
4	chr4:86520400-86525200	Weak transcription	Gastric	stomach
5	chr4:86520400-86525200	Weak transcription	Left Ventricle	heart
6	chr4:86521800-86524800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:86523600-86524400	Weak transcription	Primary B cells from cord blood	blood
8	chr4:86523800-86525000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr4:86523800-86526200	Enhancers	Primary B cells from peripheral blood	blood
10	chr4:86524000-86525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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