Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:182622812..182624319-chr2:182629170..182631069,2	K562	blood:
2	chr2:182622819..182625911-chr2:182627931..182631069,3	K562	blood:
3	chr2:182627954..182630438-chr2:182634967..182637515,2	K562	blood:

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10497586	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11891680	0.83[ASN][1000 genomes]
rs11898530	0.83[ASN][1000 genomes]
rs11902326	0.84[ASN][1000 genomes]
rs12612058	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12618902	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12620901	0.82[ASN][1000 genomes]
rs13387144	0.85[ASN][1000 genomes]
rs13396043	0.84[ASN][1000 genomes]
rs1528028	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16867494	0.91[ASN][1000 genomes]
rs16867495	0.89[ASN][1000 genomes]
rs16867496	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4597474	0.94[ASN][1000 genomes]
rs57000426	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs57971040	0.91[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59159077	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59956987	0.83[ASN][1000 genomes]
rs60200067	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61246630	0.91[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6720578	0.85[ASN][1000 genomes]
rs7567399	0.85[ASN][1000 genomes]
rs7567560	0.85[ASN][1000 genomes]
rs7581484	0.85[ASN][1000 genomes]
rs7584725	0.85[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001558	chr2:182590009-182732738	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182616800-182631000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:182629600-182630400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:182629600-182630800	Weak transcription	Fetal Intestine Small	intestine
4	chr2:182629800-182630800	Weak transcription	Stomach Mucosa	stomach

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