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:21)

rs_ID	r²[population]
rs11932891	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932933	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11935226	0.83[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11936273	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11937770	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11940597	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs11945232	0.84[YRI][hapmap]
rs56189054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56253808	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58555412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60350615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60465726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60622737	1.00[AFR][1000 genomes]
rs6825532	0.83[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6826257	0.83[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833270	0.84[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6833835	0.87[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6838776	0.82[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877349	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72877358	1.00[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:10 , 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	chr4:88336400-88340600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr4:88337200-88338600	Enhancers	Duodenum Mucosa	Duodenum
7	chr4:88337200-88340600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr4:88337400-88340600	Enhancers	Liver	Liver
9	chr4:88337800-88338200	Enhancers	A549	lung
10	chr4:88337800-88340400	Enhancers	HepG2	liver

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