Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75246903..75249490-chr15:75255100..75257323,2	K562	blood:
2	chr15:75250701..75253480-chr15:75254260..75256998,2	K562	blood:

Variant related genes	Relation type
ENSG00000178718	Chromatin interaction

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11630087	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11630592	0.84[AMR][1000 genomes]
rs11636892	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11639413	0.81[AMR][1000 genomes]
rs12912343	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2415251	0.81[AMR][1000 genomes]
rs34063670	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34799293	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35556055	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35882241	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4886413	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56338926	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62029217	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv1612	chr15:75247725-75281284	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34307821	MPI	Cis_1M	lymphoblastoid	RTeQTL
rs34307821	SCAMP2	cis	Whole Blood	GTEx
rs34307821	COX5A	Cis_1M	lymphoblastoid	RTeQTL
rs34307821	SCAMP5	cis	Artery Tibial	GTEx
rs34307821	SCAMP5	cis	lung	GTEx
rs34307821	SCAMP2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75252000-75257200	Weak transcription	Pancreas	Pancrea
2	chr15:75254200-75257000	Weak transcription	A549	lung
3	chr15:75254200-75257000	Weak transcription	Hela-S3	cervix
4	chr15:75255600-75257000	Weak transcription	Brain Germinal Matrix	brain
5	chr15:75255800-75258000	Enhancers	HUVEC	blood vessel
6	chr15:75256000-75257600	Enhancers	Spleen	Spleen
7	chr15:75256200-75257000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr15:75256200-75257600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr15:75256400-75257200	Enhancers	Lung	lung
10	chr15:75256400-75257800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr15:75256600-75257000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:75256600-75257400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr15:75256600-75257600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr15:75256600-75258000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr15:75256800-75257400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:75256800-75257600	Enhancers	Adipose Nuclei	Adipose
17	chr15:75256800-75257600	Enhancers	Fetal Muscle Leg	muscle
18	chr15:75256800-75257600	Enhancers	NHDF-Ad	bronchial
19	chr15:75256800-75257800	Enhancers	Fetal Lung	lung
20	chr15:75256800-75257800	Enhancers	HSMM	muscle
21	chr15:75256800-75257800	Enhancers	NHEK	skin

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