Variant report

Variant	rs74016583
Chromosome Location	chr15:58473252-58473253
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58351815..58354737-chr15:58471635..58473722,2	K562	blood:
2	chr15:58402611..58405043-chr15:58470858..58473947,6	K562	blood:
3	chr15:58355374..58360159-chr15:58469656..58474821,10	K562	blood:
4	chr15:58402733..58404852-chr15:58471216..58473457,2	K562	blood:
5	chr15:58357891..58359438-chr15:58472040..58474071,2	K562	blood:
6	chr15:58471240..58473438-chr15:58477636..58480344,3	K562	blood:

Variant related genes	Relation type
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs28666827	1.00[AMR][1000 genomes]
rs56897769	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57558739	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58403699	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59302123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710194	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59721837	1.00[AMR][1000 genomes]
rs60724513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016548	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016582	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016588	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016592	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016597	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016602	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74018009	1.00[AMR][1000 genomes]
rs74018010	1.00[AMR][1000 genomes]
rs74018011	1.00[AMR][1000 genomes]
rs74018023	1.00[AMR][1000 genomes]
rs74018024	1.00[AMR][1000 genomes]
rs74018025	1.00[AMR][1000 genomes]
rs9920853	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	nsv1038667	chr15:57933076-58481870	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv542400	chr15:57933076-58481870	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2752813	chr15:58461006-58507064	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58451200-58481000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:58458400-58477800	Strong transcription	Liver	Liver
3	chr15:58467400-58474600	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr15:58470800-58473800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr15:58471600-58481200	Weak transcription	Right Atrium	heart
6	chr15:58472600-58475200	Enhancers	K562	blood
7	chr15:58472800-58474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr15:58473000-58476000	Weak transcription	NHEK	skin
9	chr15:58473000-58477600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:58473000-58478400	Weak transcription	Spleen	Spleen
11	chr15:58473200-58474200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:58473200-58474400	Weak transcription	HUVEC	blood vessel
13	chr15:58473200-58476000	Weak transcription	HMEC	breast
14	chr15:58473200-58476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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