Variant report

Variant	rs12493473
Chromosome Location	chr3:143030134-143030135
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143026689..143032158-chr3:143032635..143039297,9	K562	blood:
2	chr3:143028279..143030490-chr3:143036319..143039500,3	K562	blood:
3	chr3:142947986..142949747-chr3:143028626..143030178,2	K562	blood:

Variant related genes	Relation type
ENSG00000240888	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10935487	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1112189	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488603	0.87[EUR][1000 genomes]
rs17574671	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574746	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17636943	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17637467	0.84[EUR][1000 genomes]
rs6796961	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6799793	0.87[EUR][1000 genomes]
rs73008231	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[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	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	esv2757894	chr3:142992697-143285979	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2759184	chr3:142992697-143285979	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143015200-143039600	Weak transcription	Brain Substantia Nigra	brain
2	chr3:143018400-143039400	Weak transcription	Primary B cells from cord blood	blood
3	chr3:143022000-143032400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:143022400-143032200	Weak transcription	Fetal Thymus	thymus
5	chr3:143022400-143048200	Weak transcription	Psoas Muscle	Psoas
6	chr3:143025600-143040000	Weak transcription	Right Atrium	heart
7	chr3:143026600-143033200	Weak transcription	HSMM	muscle
8	chr3:143026600-143047400	Weak transcription	Spleen	Spleen
9	chr3:143026800-143032600	Weak transcription	Right Ventricle	heart
10	chr3:143027000-143030200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr3:143027000-143031200	Weak transcription	Dnd41	blood
12	chr3:143027000-143032600	Weak transcription	Left Ventricle	heart
13	chr3:143029000-143030200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr3:143029000-143032400	Weak transcription	NHDF-Ad	bronchial
15	chr3:143029400-143045800	Weak transcription	Adipose Nuclei	Adipose
16	chr3:143029600-143030200	Enhancers	Ovary	ovary
17	chr3:143029600-143030200	Enhancers	K562	blood
18	chr3:143029800-143030200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:143029800-143032400	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:143029800-143045200	Weak transcription	Primary T cells from cord blood	blood
21	chr3:143030000-143030200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:143030000-143030200	Enhancers	Fetal Lung	lung
23	chr3:143030000-143031200	Enhancers	HSMMtube	muscle
24	chr3:143030000-143032000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:143030000-143032000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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