Variant report

Variant	rs12054081
Chromosome Location	chr3:69166451-69166452
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69166135..69168854-chr3:69169278..69171647,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs6549183	0.90[ASN][1000 genomes]
rs72924842	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924866	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924874	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72924880	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7621852	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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv2762334	chr3:69157085-69173375	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69153800-69168000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:69154000-69167800	Weak transcription	Pancreas	Pancrea
3	chr3:69154000-69170200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr3:69155800-69170200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:69158400-69167200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:69160600-69172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr3:69163200-69166800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr3:69163200-69170000	Weak transcription	Brain Angular Gyrus	brain
9	chr3:69163600-69171600	Weak transcription	Fetal Lung	lung
10	chr3:69164400-69167400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr3:69164600-69166600	Enhancers	HMEC	breast
12	chr3:69164600-69167400	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr3:69164800-69166600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:69164800-69166600	Active TSS	Right Atrium	heart
15	chr3:69164800-69166600	Enhancers	NHEK	skin
16	chr3:69165400-69166800	Flanking Active TSS	Fetal Heart	heart
17	chr3:69165400-69167000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr3:69165400-69167400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr3:69166000-69166600	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:69166000-69167800	Weak transcription	Right Ventricle	heart
21	chr3:69166200-69167200	Weak transcription	Left Ventricle	heart
22	chr3:69166200-69169800	Weak transcription	HSMM	muscle
23	chr3:69166200-69170400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:69166200-69171200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr3:69166400-69167200	Weak transcription	Fetal Muscle Leg	muscle
26	chr3:69166400-69167400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr3:69166400-69167800	Enhancers	Brain Hippocampus Middle	brain
28	chr3:69166400-69168000	Weak transcription	Psoas Muscle	Psoas
29	chr3:69166400-69169800	Weak transcription	HSMMtube	muscle
30	chr3:69166400-69170000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr3:69166400-69171200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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