Variant report

No.	Distal block	Cell Line	Cell type
1	chr5:90229324..90232052-chr5:90677274..90680674,3	K562	blood:
2	chr5:90228479..90231902-chr5:90233871..90236526,4	K562	blood:
3	chr5:90224688..90232317-chr5:90673389..90680405,10	MCF-7	breast:
4	chr5:90229167..90233295-chr5:90677274..90680506,5	K562	blood:
5	chr5:90229213..90231347-chr5:90243310..90245324,2	K562	blood:
6	chr5:90229694..90231320-chr5:90235004..90237466,2	K562	blood:
7	chr5:90230829..90232483-chr5:90277236..90279567,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000113369	Chromatin interaction

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10057134	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10213801	0.83[CEU][hapmap]
rs10942618	0.96[CEU][hapmap];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10942619	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11744005	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11749470	0.96[CEU][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11750515	1.00[CEU][hapmap];0.96[GIH][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13163934	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1967413	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2063244	0.96[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2973444	1.00[CHB][hapmap]
rs3105789	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3105790	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3114655	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4415111	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6452914	0.96[CEU][hapmap];0.83[GIH][hapmap];0.86[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6867530	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7705201	0.96[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7716083	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs949788	1.00[CHB][hapmap]

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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90225600-90232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:90225800-90236200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:90225800-90244000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr5:90228400-90239200	Weak transcription	Aorta	Aorta
5	chr5:90228600-90235000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:90229400-90233800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr5:90229400-90235600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:90229800-90235000	Weak transcription	Fetal Kidney	kidney
9	chr5:90229800-90235800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr5:90229800-90235800	Weak transcription	Fetal Stomach	stomach
11	chr5:90230000-90234600	Weak transcription	A549	lung
12	chr5:90230400-90265200	Weak transcription	K562	blood
13	chr5:90230800-90231600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:90230800-90235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:90230800-90235800	Weak transcription	HepG2	liver

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