Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:88331097..88333648-chr4:88336719..88339315,2	K562	blood:
2	chr4:88335741..88338159-chr4:88341487..88345054,3	MCF-7	breast:
3	chr4:88331097..88333648-chr4:88336348..88339315,3	K562	blood:

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11932891	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11935226	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936273	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11937770	0.89[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11940597	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56189054	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56253808	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58555412	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60350615	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60465726	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60622737	0.85[AFR][1000 genomes]
rs6825532	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826257	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833270	1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6838776	0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6839314	0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877357	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877358	0.85[AFR][1000 genomes];1.00[AMR][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	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88329600-88342600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:88331800-88340400	Weak transcription	Stomach Mucosa	stomach
3	chr4:88332400-88339400	Weak transcription	Fetal Intestine Large	intestine
4	chr4:88334600-88342800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:88335600-88337400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:88336400-88340600	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr4:88336800-88337400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:88337200-88338600	Enhancers	Duodenum Mucosa	Duodenum
9	chr4:88337200-88340600	Weak transcription	Rectal Mucosa Donor 29	rectum

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