Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:55653744..55655531-chr2:55659781..55661813,3	K562	blood:
2	chr2:55646192..55651046-chr2:55651862..55657167,5	K562	blood:
3	chr2:55652771..55655244-chr2:55659480..55661281,2	K562	blood:
4	chr2:55652880..55655236-chr2:55657266..55660173,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115355	Chromatin interaction

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

rs_ID	r²[population]
rs17046835	0.93[AFR][1000 genomes]
rs17046888	0.87[AFR][1000 genomes]
rs17046898	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57623398	0.84[AFR][1000 genomes]
rs60920006	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6714932	0.90[AFR][1000 genomes]
rs6719677	0.86[AFR][1000 genomes]
rs6734415	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735009	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915986	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915988	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72915989	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72915991	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72918975	0.84[AFR][1000 genomes]
rs72923130	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923150	0.88[AFR][1000 genomes]
rs72923183	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72923194	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72929306	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562535	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7589558	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7600665	0.93[AFR][1000 genomes];1.00[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	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55648000-55659000	Weak transcription	Adipose Nuclei	Adipose
2	chr2:55650000-55659000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr2:55653200-55657000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:55653200-55657400	Weak transcription	HUVEC	blood vessel
5	chr2:55653200-55657400	Weak transcription	Osteobl	bone
6	chr2:55653200-55657600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:55653200-55658000	Weak transcription	NHDF-Ad	bronchial
8	chr2:55653400-55657000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:55653400-55657200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:55653400-55657200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:55653800-55655400	Weak transcription	A549	lung
12	chr2:55654000-55655200	Weak transcription	Hela-S3	cervix

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