Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:74903212..74905934-chr4:74998158..75001243,4	K562	blood:
2	chr4:74605276..74607483-chr4:74998559..75001335,2	MCF-7	breast:
3	chr4:74963512..74965298-chr4:74998131..75000514,2	K562	blood:
4	chr4:74998740..75001079-chr4:75031773..75033857,2	K562	blood:
5	chr4:73933047..73934881-chr4:74998763..75001589,2	K562	blood:
6	chr4:74918435..74920620-chr4:74998592..75000975,2	K562	blood:

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1261907	1.00[AMR][1000 genomes]
rs164755	1.00[AMR][1000 genomes]
rs164756	1.00[AMR][1000 genomes]
rs16850399	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs191613	1.00[AMR][1000 genomes]
rs2573028	1.00[AMR][1000 genomes]
rs352039	1.00[AMR][1000 genomes]
rs352040	1.00[AMR][1000 genomes]
rs352049	1.00[AMR][1000 genomes]
rs472689	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs486154	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs488994	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499451	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505197	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs526993	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs539431	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs543325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs550282	1.00[AMR][1000 genomes]
rs551055	1.00[AMR][1000 genomes]
rs570922	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs571068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74988400-74999600	Weak transcription	NHEK	skin
2	chr4:74989400-74999600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr4:74995400-74999600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr4:74996200-74999600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:74998200-74999400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:74998600-75000000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:74998600-75000000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:74998800-74999800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:74998800-75000000	Enhancers	Brain Anterior Caudate	brain
10	chr4:74998800-75000000	Enhancers	Brain Substantia Nigra	brain
11	chr4:74998800-75000200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr4:74998800-75000200	Enhancers	Brain Hippocampus Middle	brain
13	chr4:74999000-75000000	Enhancers	Liver	Liver
14	chr4:74999000-75000200	Enhancers	HMEC	breast
15	chr4:74999200-75002200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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