Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:180430735..180433402-chr2:180437315..180438959,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10169569	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11894850	0.82[ASN][1000 genomes]
rs12693194	0.82[ASN][1000 genomes]
rs12997546	0.82[ASN][1000 genomes]
rs1399692	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1515297	0.82[ASN][1000 genomes]
rs1515298	0.82[ASN][1000 genomes]
rs16866782	0.84[ASN][1000 genomes]
rs2203459	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112931	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3112933	0.82[ASN][1000 genomes]
rs4267476	0.82[ASN][1000 genomes]
rs56201866	0.82[ASN][1000 genomes]
rs62179171	0.82[ASN][1000 genomes]
rs713463	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7579911	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868271	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868272	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868273	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868274	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs999000	0.95[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180427400-180436400	Weak transcription	Psoas Muscle	Psoas
3	chr2:180428000-180434000	Weak transcription	HepG2	liver
4	chr2:180428000-180435200	Weak transcription	Fetal Kidney	kidney
5	chr2:180428200-180432400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:180429000-180432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:180430400-180434200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:180431200-180432400	Weak transcription	HSMMtube	muscle

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