Variant report

No.	Distal block	Cell Line	Cell type
1	chr2:12085580..12088187-chr2:12090177..12093048,3	K562	blood:
2	chr2:12089447..12091236-chr2:12095182..12096946,2	K562	blood:
3	chr2:11967833..11971284-chr2:12088713..12091572,3	K562	blood:

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10520110	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11901062	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12614423	0.93[EUR][1000 genomes]
rs2716629	0.83[ASN][1000 genomes]
rs2716642	0.83[ASN][1000 genomes]
rs55643286	0.91[ASN][1000 genomes]
rs55821055	0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57404562	0.91[ASN][1000 genomes]
rs58122677	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs58851677	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59826552	0.88[ASN][1000 genomes]
rs59883742	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61152861	0.86[EUR][1000 genomes]
rs62115003	0.90[EUR][1000 genomes]
rs62115005	0.93[EUR][1000 genomes]
rs62115038	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62115039	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62115045	0.91[ASN][1000 genomes]
rs62115051	0.85[ASN][1000 genomes]
rs62115052	0.85[ASN][1000 genomes]
rs62115054	0.86[ASN][1000 genomes]
rs6733012	0.86[ASN][1000 genomes]
rs6736037	0.89[EUR][1000 genomes]
rs73915877	0.91[ASN][1000 genomes]
rs7564098	0.88[EUR][1000 genomes]
rs7590488	0.92[EUR][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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12090000-12090800	Enhancers	Primary B cells from cord blood	blood
2	chr2:12090200-12090800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:12090200-12090800	Enhancers	Primary B cells from peripheral blood	blood
4	chr2:12090200-12091600	Enhancers	NHEK	skin
5	chr2:12090400-12090800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:12090400-12090800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:12090400-12090800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:12090400-12090800	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr2:12090400-12091200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:12090400-12091200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:12090400-12091200	Enhancers	K562	blood
12	chr2:12090400-12091600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr2:12090400-12091600	Enhancers	HMEC	breast
14	chr2:12090600-12090800	Enhancers	Esophagus	oesophagus
15	chr2:12090600-12091800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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