Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:12070694..12072455-chr2:12080928..12083157,2	K562	blood:
2	chr2:12080014..12082829-chr2:12105758..12108452,2	K562	blood:
3	chr2:12070694..12072455-chr2:12080928..12083157,3	K562	blood:

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

rs_ID	r²[population]
rs1004441	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10210362	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13012835	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1985419	0.96[ASN][1000 genomes]
rs2016806	0.94[ASN][1000 genomes]
rs2033874	0.86[ASN][1000 genomes]
rs2033875	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2033876	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2119145	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2248650	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2249223	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2255293	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2581066	0.85[ASN][1000 genomes]
rs2581069	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2581070	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2581075	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2581077	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2581078	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2581083	0.81[AMR][1000 genomes]
rs972874	0.85[ASN][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	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv833403	chr2:11944552-12125634	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 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	chr2:12072600-12084600	Weak transcription	Primary B cells from cord blood	blood
2	chr2:12074400-12084200	Weak transcription	GM12878-XiMat	blood
3	chr2:12079400-12090600	Weak transcription	Esophagus	oesophagus
4	chr2:12081400-12085600	Weak transcription	Right Atrium	heart
5	chr2:12081600-12082800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:12081600-12082800	Enhancers	K562	blood
7	chr2:12082000-12082600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:12082200-12082600	Enhancers	ES-I3 Cell Line	embryonic stem cell

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