Variant report

Variant	rs12639529
Chromosome Location	chr3:142866138-142866139
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10935481	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12631403	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636769	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545423	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4440094	0.86[EUR][1000 genomes]
rs4683457	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683753	0.86[EUR][1000 genomes]
rs6777051	0.85[EUR][1000 genomes]
rs6802963	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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:18 , 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	chr3:142860000-142866600	Weak transcription	K562	blood
4	chr3:142862800-142866400	Enhancers	Fetal Lung	lung
5	chr3:142864800-142866200	Enhancers	Fetal Stomach	stomach
6	chr3:142864800-142866400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr3:142864800-142866400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:142864800-142866400	Enhancers	NHLF	lung
9	chr3:142865400-142867000	Enhancers	NHDF-Ad	bronchial
10	chr3:142865600-142866400	Enhancers	Osteobl	bone
11	chr3:142865800-142866200	Enhancers	Fetal Muscle Trunk	muscle
12	chr3:142865800-142866400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:142865800-142866400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:142865800-142866400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:142865800-142866400	Enhancers	Fetal Brain Male	brain
16	chr3:142865800-142866400	Enhancers	Fetal Muscle Leg	muscle
17	chr3:142866000-142866200	Enhancers	Fetal Brain Female	brain
18	chr3:142866000-142869400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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

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