Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171851085..171853826-chr1:171859070..171862052,2	K562	blood:

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12121064	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12123946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12130277	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12133814	0.80[ASN][1000 genomes]
rs12135871	0.86[ASN][1000 genomes]
rs12136630	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12137824	0.86[ASN][1000 genomes]
rs12137825	0.86[ASN][1000 genomes]
rs12140603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12141726	0.86[ASN][1000 genomes]
rs12141865	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12143501	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2421949	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3817923	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61805807	0.86[ASN][1000 genomes]
rs6673009	0.86[ASN][1000 genomes]
rs74126507	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126515	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126524	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74126528	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7543247	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171844400-171858200	Weak transcription	Left Ventricle	heart
2	chr1:171847800-171853600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:171849800-171853600	Weak transcription	Brain Anterior Caudate	brain
4	chr1:171850800-171853400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:171851000-171853600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:171852400-171854000	Enhancers	Fetal Thymus	thymus
7	chr1:171852800-171853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr1:171852800-171854200	Enhancers	GM12878-XiMat	blood
9	chr1:171853000-171853800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:171853000-171854200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:171853000-171854200	Enhancers	Brain Substantia Nigra	brain
12	chr1:171853000-171854200	Enhancers	Dnd41	blood
13	chr1:171853000-171854400	Enhancers	Brain Cingulate Gyrus	brain
14	chr1:171853000-171854400	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr1:171853000-171855200	Enhancers	Brain Hippocampus Middle	brain
16	chr1:171853200-171854400	Enhancers	Brain Angular Gyrus	brain

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