Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:211877596..211879962-chr1:211887940..211890928,3	K562	blood:
2	chr1:211877072..211879946-chr1:211891385..211892885,2	K562	blood:
3	chr1:211872225..211875741-chr1:211876150..211878812,3	K562	blood:
4	chr1:211874453..211877155-chr1:211877610..211880535,2	MCF-7	breast:

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs61828229	0.82[AMR][1000 genomes]
rs61828232	0.95[AMR][1000 genomes]
rs61828233	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828235	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828236	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828237	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61828239	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211872200-211878800	Weak transcription	Right Atrium	heart
2	chr1:211872800-211884000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:211875600-211878200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:211875600-211878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:211876000-211880000	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:211876400-211879400	Enhancers	Brain Substantia Nigra	brain
7	chr1:211876600-211878400	Enhancers	Brain Angular Gyrus	brain
8	chr1:211876600-211879000	Weak transcription	Placenta	Placenta
9	chr1:211876800-211879400	Enhancers	Brain Anterior Caudate	brain
10	chr1:211876800-211880400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:211877000-211878200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:211877000-211880000	Enhancers	Fetal Muscle Leg	muscle
13	chr1:211877200-211878400	Enhancers	Spleen	Spleen
14	chr1:211877600-211879400	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:211877600-211880000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:211877800-211879400	Enhancers	Brain Hippocampus Middle	brain
17	chr1:211877800-211879400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr1:211877800-211880200	Enhancers	NHEK	skin
19	chr1:211878000-211878400	Weak transcription	HSMMtube	muscle
20	chr1:211878000-211880200	Enhancers	HMEC	breast

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