Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:38741140..38745477-chr2:38746945..38750612,4	K562	blood:
2	chr2:38744934..38749132-chr2:38975664..38979729,4	K562	blood:
3	chr2:38742195..38744848-chr2:38747501..38749545,2	MCF-7	breast:

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

rs_ID	r²[population]
rs12622497	0.91[EUR][1000 genomes]
rs12622526	0.91[EUR][1000 genomes]
rs12993657	0.91[EUR][1000 genomes]
rs13003268	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13004207	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13011825	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13017981	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13382384	0.90[EUR][1000 genomes]
rs13383838	0.91[EUR][1000 genomes]
rs34311924	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34355269	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35066504	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35120096	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35275207	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35299812	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3731843	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59239099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72795132	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7584009	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7592090	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7603200	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7606253	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7606376	0.95[AMR][1000 genomes];0.95[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	nsv916059	chr2:38332341-39119398	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	143 gene(s)	inside rSNPs	diseases
2	nsv9646	chr2:38358311-39082189	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv873881	chr2:38745624-38877636	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr2:38743000-38749600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:38743000-38750000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr2:38743200-38750000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:38743200-38750400	Weak transcription	Aorta	Aorta
5	chr2:38744800-38751600	Weak transcription	Adipose Nuclei	Adipose
6	chr2:38745000-38749400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr2:38745000-38749400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:38745000-38750000	Weak transcription	K562	blood
9	chr2:38745000-38753400	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:38747000-38749400	Weak transcription	Ovary	ovary

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