Variant report

Variant	rs12992846
Chromosome Location	chr4:114859225-114859226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12467323	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12476741	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13014078	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13021413	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34438177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177302	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62177303	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6752223	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6760910	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73041940	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564756	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7601902	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	nsv1003257	chr4:114560471-115076466	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv525087	chr4:114661681-115311484	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv524515	chr4:114839270-115622307	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:114824800-114863600	Weak transcription	Aorta	Aorta
2	chr4:114825000-114863600	Weak transcription	HUVEC	blood vessel
3	chr4:114843000-114863000	Weak transcription	HSMM	muscle
4	chr4:114843200-114863600	Weak transcription	Osteobl	bone
5	chr4:114844400-114862800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr4:114844800-114863000	Weak transcription	NH-A	brain
7	chr4:114847800-114864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:114847800-114864400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:114847800-114882000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:114857000-114861200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:114857000-114863200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:114857000-114864400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:114857200-114861200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr4:114857400-114861400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:114857400-114862800	Weak transcription	NHLF	lung
16	chr4:114857400-114863200	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr4:114857400-114864400	Weak transcription	NHDF-Ad	bronchial
18	chr4:114857400-114864600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:114858800-114861200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:114858800-114865200	Weak transcription	Esophagus	oesophagus

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