Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:205317459..205320428-chr2:205333008..205336253,3	K562	blood:
2	chr2:205317299..205320276-chr2:205333008..205336367,3	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10084416	0.81[ASN][1000 genomes]
rs10490267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1156249	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12616166	0.82[ASN][1000 genomes]
rs13001546	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13003798	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13005161	0.92[EUR][1000 genomes]
rs13007075	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13021097	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13024043	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1447488	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1447490	0.85[EUR][1000 genomes]
rs1550909	0.92[EUR][1000 genomes]
rs17637637	0.80[EUR][1000 genomes]
rs17637778	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34368384	0.80[EUR][1000 genomes]
rs34816339	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35207649	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4675457	0.81[ASN][1000 genomes]
rs71427750	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs71427751	0.92[EUR][1000 genomes]
rs71427753	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs921163	0.90[EUR][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	nsv964353	chr2:205303005-205473935	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv34706	chr2:205309211-205348724	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr2:205332600-205333600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:205332600-205333600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:205332600-205333800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:205332600-205335000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:205332600-205335000	Enhancers	NHLF	lung
6	chr2:205332600-205335200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:205332600-205335600	Enhancers	NHDF-Ad	bronchial
8	chr2:205332600-205336200	Enhancers	Fetal Lung	lung
9	chr2:205332800-205333400	Weak transcription	Adipose Nuclei	Adipose
10	chr2:205332800-205333800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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