Variant report

Variant	rs12488332
Chromosome Location	chr3:99255318-99255319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10935836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12496937	0.90[EUR][1000 genomes]
rs1398739	0.90[EUR][1000 genomes]
rs1513297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1513313	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17775314	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2063638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59039617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6440679	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765526	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6804164	0.96[ASN][1000 genomes]
rs73134321	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73134343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73144669	0.90[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7646873	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530026	chr3:98837320-99340537	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv3422853	chr3:99208019-99342748	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99246600-99262000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:99249200-99256000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr3:99251400-99256200	Weak transcription	Aorta	Aorta
4	chr3:99253200-99256000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr3:99253400-99256400	Enhancers	HSMM	muscle
6	chr3:99253600-99255600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:99253600-99255600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:99253600-99256400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr3:99253600-99256400	Enhancers	NHEK	skin
10	chr3:99254000-99256000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr3:99254000-99256000	Enhancers	Osteobl	bone
12	chr3:99254000-99256800	Enhancers	NHDF-Ad	bronchial
13	chr3:99254200-99255600	Enhancers	NHLF	lung
14	chr3:99254200-99255800	Enhancers	Fetal Stomach	stomach
15	chr3:99254200-99256000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr3:99254400-99256600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr3:99254600-99255600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr3:99254600-99256000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:99254800-99256400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:99254800-99258800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:99255000-99256000	Weak transcription	Fetal Lung	lung
22	chr3:99255200-99255600	Weak transcription	Adipose Nuclei	Adipose
23	chr3:99255200-99261400	Weak transcription	HMEC	breast

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