Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:12097298..12099065-chr2:12103838..12105427,2	K562	blood:

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1004441	0.83[ASN][1000 genomes]
rs10210362	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13012835	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1595810	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1985419	0.84[ASN][1000 genomes]
rs2016806	0.82[ASN][1000 genomes]
rs2033874	0.86[ASN][1000 genomes]
rs2033875	0.87[ASN][1000 genomes]
rs2033876	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2119145	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2248650	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2249223	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2581054	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2581055	0.97[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs2581066	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2581069	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2581070	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2581075	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2581077	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2581078	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2581080	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6761070	0.85[YRI][hapmap]
rs972874	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2255293	ZC3H7B	trans	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:12102000-12105800	Weak transcription	GM12878-XiMat	blood
2	chr2:12102200-12107000	Weak transcription	Fetal Lung	lung
3	chr2:12102600-12105000	Enhancers	Colon Smooth Muscle	Colon
4	chr2:12103200-12108000	Weak transcription	Left Ventricle	heart
5	chr2:12103200-12108000	Weak transcription	Right Atrium	heart
6	chr2:12104000-12106200	Weak transcription	K562	blood
7	chr2:12104400-12107000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr2:12104400-12107400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:12104400-12107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:12104400-12107800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:12104400-12107800	Weak transcription	HMEC	breast
12	chr2:12104400-12107800	Weak transcription	NHEK	skin

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