Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:59513939..59516832-chr11:59518797..59521533,2	K562	blood:
2	chr11:59519722..59526041-chr11:59575307..59578961,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166902	Chromatin interaction
ENSG00000255538	Chromatin interaction

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

rs_ID	r²[population]
rs2508335	0.82[AMR][1000 genomes]
rs2509274	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2509275	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2927182	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2927183	0.82[AMR][1000 genomes]
rs475800	0.81[AMR][1000 genomes]
rs479264	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs484030	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs484814	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs486587	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs499037	0.82[AMR][1000 genomes]
rs507235	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs510122	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs511785	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs519605	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs549086	0.82[AMR][1000 genomes]
rs555175	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs561029	0.82[AMR][1000 genomes]
rs563800	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs567485	0.80[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs569326	0.90[AFR][1000 genomes];0.82[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	esv2752406	chr11:59490424-59529524	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	esv2755215	chr11:59515524-59529524	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59517000-59521200	Weak transcription	K562	blood
2	chr11:59517800-59521200	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:59518600-59521000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:59519000-59521600	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:59519200-59520400	Weak transcription	Fetal Intestine Small	intestine
6	chr11:59519200-59521200	Weak transcription	Duodenum Mucosa	Duodenum
7	chr11:59519600-59521600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:59520000-59521600	Weak transcription	Rectal Mucosa Donor 31	rectum

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