Variant report

Variant	rs74016597
Chromosome Location	chr15:58480134-58480135
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58356916..58358526-chr15:58478594..58480634,2	K562	blood:
2	chr15:58471240..58473438-chr15:58477636..58480344,3	K562	blood:
3	chr15:58304704..58306626-chr15:58479372..58481388,2	K562	blood:
4	chr15:58479445..58483146-chr15:58484303..58486814,3	K562	blood:
5	chr15:58473604..58477327-chr15:58478403..58482264,4	K562	blood:

Variant related genes	Relation type
ENSG00000128918	Chromatin interaction
ENSG00000259285	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28666827	1.00[AMR][1000 genomes]
rs56897769	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57558739	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58403699	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59302123	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59710194	1.00[AMR][1000 genomes]
rs59721837	1.00[AMR][1000 genomes]
rs60724513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016548	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016582	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016583	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016588	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016592	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74016602	0.95[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:6 , 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
6	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr15:58451200-58481000	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr15:58471600-58481200	Weak transcription	Right Atrium	heart
3	chr15:58475200-58481000	Weak transcription	K562	blood
4	chr15:58478400-58481400	Weak transcription	GM12878-XiMat	blood
5	chr15:58478800-58483800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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