Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:41298926..41301018-chr12:41302618..41305586,2	K562	blood:

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

rs_ID	r²[population]
rs10506178	0.81[ASN][1000 genomes]
rs10879339	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10879340	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11178967	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11178982	0.85[CEU][hapmap];0.93[YRI][hapmap]
rs11179021	0.83[ASN][1000 genomes]
rs11179030	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12317351	0.80[AMR][1000 genomes]
rs12423197	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12423199	0.93[ASN][1000 genomes]
rs12424493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1442179	0.84[ASN][1000 genomes]
rs1442180	0.83[ASN][1000 genomes]
rs17621741	0.85[CEU][hapmap];0.90[YRI][hapmap]
rs17622354	0.80[EUR][1000 genomes]
rs2304819	0.93[ASN][1000 genomes]
rs2897101	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139018	0.87[YRI][hapmap]
rs7309918	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7970447	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[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	nsv427909	chr12:41054306-41322257	Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv832380	chr12:41132306-41323961	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41285000-41304600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:41297200-41300400	Weak transcription	A549	lung
3	chr12:41297200-41300600	Weak transcription	HMEC	breast
4	chr12:41297200-41338600	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:41297400-41300400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:41297400-41300600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41297400-41328600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:41297400-41338600	Weak transcription	Brain Angular Gyrus	brain
9	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr12:41297600-41300400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:41297600-41300400	Weak transcription	NHEK	skin

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