Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:83500913..83502581-chr12:83513715..83516679,2	K562	blood:

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10862585	0.82[EUR][1000 genomes]
rs10862587	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11115601	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11115602	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11513936	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6539702	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6539703	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6539704	0.82[EUR][1000 genomes]
rs7954865	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7956999	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7960222	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[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	nsv521849	chr12:83013783-83991479	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv559559	chr12:83505512-83765069	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv3436106	chr12:83515776-83515989	Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83515200-83516000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:83515200-83516200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:83515400-83516200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:83515400-83516600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:83515400-83516600	Enhancers	K562	blood
6	chr12:83515600-83516200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:83515600-83516400	Genic enhancers	Fetal Stomach	stomach
8	chr12:83515600-83516800	Flanking Active TSS	Brain Cingulate Gyrus	brain
9	chr12:83515800-83516000	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr12:83515800-83516200	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr12:83515800-83516200	Flanking Active TSS	Brain Substantia Nigra	brain
12	chr12:83515800-83516400	Flanking Active TSS	Brain Angular Gyrus	brain
13	chr12:83515800-83516400	Flanking Active TSS	Brain Hippocampus Middle	brain
14	chr12:83515800-83516400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
15	chr12:83515800-83516400	Enhancers	Fetal Brain Male	brain
16	chr12:83515800-83516400	Active TSS	HSMMtube	muscle
17	chr12:83515800-83516600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:83515800-83516600	Enhancers	Fetal Lung	lung
19	chr12:83515800-83516600	Enhancers	Fetal Muscle Leg	muscle
20	chr12:83515800-83517000	Enhancers	Cortex derived primary cultured neurospheres	brain

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