Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151911293..151912869-chr2:151915243..151918186,2	K562	blood:

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

rs_ID	r²[population]
rs10930435	0.81[ASN][1000 genomes]
rs11883593	0.81[ASN][1000 genomes]
rs11883594	0.81[ASN][1000 genomes]
rs12233107	0.89[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs12692945	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13016235	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13017640	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13385131	0.84[CEU][hapmap];0.83[CHB][hapmap];0.81[JPT][hapmap]
rs13431234	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1351930	0.81[ASN][1000 genomes]
rs1385432	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1485112	0.81[ASN][1000 genomes]
rs1485113	0.81[ASN][1000 genomes]
rs1905751	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2086914	0.81[ASN][1000 genomes]
rs4664233	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4664897	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6433139	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6731235	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7565410	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7567416	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7586120	0.85[ASN][1000 genomes]
rs7591935	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525350	chr2:151711700-152044794	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
3	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv1002140	chr2:151833257-152054910	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151906400-151912600	Weak transcription	NHLF	lung
2	chr2:151908600-151912600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:151908600-151912600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:151910000-151912800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:151910400-151912800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr2:151910400-151919400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:151910600-151912600	Weak transcription	Osteobl	bone
8	chr2:151910600-151912800	Weak transcription	NHEK	skin
9	chr2:151910600-151917000	Weak transcription	HMEC	breast
10	chr2:151910600-151919400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:151910800-151912600	Weak transcription	NHDF-Ad	bronchial
12	chr2:151912000-151914800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:151912400-151913000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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