Variant report

Variant	rs4683752
Chromosome Location	chr3:142869930-142869931
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10804687	0.88[ASN][1000 genomes]
rs10935482	0.88[ASN][1000 genomes]
rs11709062	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11717285	0.81[AMR][1000 genomes]
rs1463216	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1530754	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1947236	0.88[ASN][1000 genomes]
rs1947237	0.80[ASN][1000 genomes]
rs2352735	0.88[ASN][1000 genomes]
rs34057904	0.88[ASN][1000 genomes]
rs4234479	0.81[ASN][1000 genomes]
rs4361251	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4428144	0.88[ASN][1000 genomes]
rs6772066	0.88[ASN][1000 genomes]
rs6776371	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9647323	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	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
4	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv508250	chr3:142842454-142943722	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:142853400-142870600	Weak transcription	Primary T cells from cord blood	blood
2	chr3:142853600-142873000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:142866200-142870600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr3:142866400-142870200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:142866400-142876400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:142867000-142870200	Weak transcription	NHDF-Ad	bronchial
7	chr3:142867800-142871200	Enhancers	Fetal Lung	lung
8	chr3:142869400-142870000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:142869400-142870200	Enhancers	HSMMtube	muscle
10	chr3:142869400-142870600	Enhancers	Right Atrium	heart
11	chr3:142869400-142871200	Enhancers	Adipose Nuclei	Adipose
12	chr3:142869400-142871200	Enhancers	Fetal Stomach	stomach
13	chr3:142869400-142871200	Enhancers	Left Ventricle	heart
14	chr3:142869600-142870000	Weak transcription	Fetal Muscle Leg	muscle
15	chr3:142869800-142870800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:142869800-142876600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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