Variant report

No.	Distal block	Cell Line	Cell type
1	chr6:43979756..43982163-chr6:43986002..43988469,2	K562	blood:
2	chr6:43985949..43988474-chr6:43988531..43990838,2	K562	blood:
3	chr6:43882397..43883979-chr6:43987141..43989215,2	K562	blood:
4	chr6:43980234..43981760-chr6:43985951..43988220,2	K562	blood:

Variant related genes	Relation type
ENSG00000265518	Chromatin interaction

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11967633	1.00[CEU][hapmap]
rs58521541	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60032608	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73424375	1.00[EUR][1000 genomes]
rs73424378	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73424380	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73424395	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7761945	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7768309	1.00[CEU][hapmap];0.88[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7772862	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9381275	1.00[CEU][hapmap];0.89[EUR][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462934	chr6:43956615-44007446	Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv603001	chr6:43956615-44007446	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43979400-44010400	Weak transcription	Pancreas	Pancrea
2	chr6:43979600-44002200	Weak transcription	Right Ventricle	heart
3	chr6:43980200-43991200	Weak transcription	Left Ventricle	heart
4	chr6:43981200-43988000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:43981800-43988200	Weak transcription	HSMM	muscle
6	chr6:43984600-43988000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr6:43984600-43990000	Weak transcription	NH-A	brain
8	chr6:43984800-43988000	Weak transcription	Osteobl	bone
9	chr6:43984800-43988200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:43985200-43990200	Weak transcription	Hela-S3	cervix
11	chr6:43986800-43990600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:43987000-43988200	Enhancers	Ovary	ovary
13	chr6:43987000-43991200	Enhancers	Fetal Stomach	stomach
14	chr6:43987000-43993200	Enhancers	Fetal Muscle Trunk	muscle
15	chr6:43987200-43988600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:43987200-43988600	Enhancers	Fetal Lung	lung
17	chr6:43987200-43992800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr6:43987200-43993200	Enhancers	Fetal Muscle Leg	muscle
19	chr6:43987200-43995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr6:43987400-43988400	Enhancers	NHLF	lung
21	chr6:43987600-43988200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:43987600-43990600	Enhancers	NHDF-Ad	bronchial

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