Variant report

Variant	rs12654348
Chromosome Location	chr5:119942506-119942507
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10037806	0.83[ASN][1000 genomes]
rs10053278	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10077211	0.83[ASN][1000 genomes]
rs11241557	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12054672	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12519395	0.81[ASN][1000 genomes]
rs1375463	0.83[ASN][1000 genomes]
rs1449165	0.83[ASN][1000 genomes]
rs1524559	0.92[ASN][1000 genomes]
rs1524564	0.83[ASN][1000 genomes]
rs1960572	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045187	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2124166	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2124167	0.83[ASN][1000 genomes]
rs2168217	0.83[ASN][1000 genomes]
rs2218717	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2405955	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2405957	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4438902	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4895266	0.83[ASN][1000 genomes]
rs6881962	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv948613	chr5:119861955-119999008	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv599602	chr5:119866504-120023393	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv949499	chr5:119869763-119999008	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119938600-119946000	Enhancers	NHDF-Ad	bronchial
2	chr5:119938800-119950000	Weak transcription	Aorta	Aorta
3	chr5:119939800-119942600	Enhancers	NH-A	brain
4	chr5:119939800-119944600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr5:119940000-119942600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr5:119940000-119942600	Enhancers	HMEC	breast
7	chr5:119940000-119943400	Enhancers	NHLF	lung
8	chr5:119940200-119942600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr5:119940200-119943600	Enhancers	HSMM	muscle
10	chr5:119940400-119942600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:119941200-119942600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:119941400-119942600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr5:119941600-119946600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:119941800-119942600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:119941800-119942800	Enhancers	HSMMtube	muscle
16	chr5:119941800-119945400	Enhancers	Osteobl	bone
17	chr5:119941800-119950200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:119942000-119943000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:119942000-119943600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:119942000-119944200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:119942000-119945200	Weak transcription	Hela-S3	cervix
22	chr5:119942000-119947000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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