Variant report

Variant	rs13272393
Chromosome Location	chr8:49061409-49061410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:49059447..49061809-chr8:49066449..49068254,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11776380	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778329	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11778909	0.82[AFR][1000 genomes]
rs11781302	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11783856	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6991823	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72633941	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72633943	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72633944	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49051800-49065800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:49056200-49066000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:49058000-49064800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:49060200-49061600	Weak transcription	Osteobl	bone
5	chr8:49060200-49061800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr8:49060200-49062200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr8:49060200-49064200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:49060400-49061800	Weak transcription	HMEC	breast
9	chr8:49060400-49063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:49060600-49061600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr8:49060600-49061600	Weak transcription	Liver	Liver
12	chr8:49060600-49061600	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr8:49060600-49061800	Weak transcription	Fetal Muscle Leg	muscle
14	chr8:49060600-49061800	Weak transcription	NHDF-Ad	bronchial
15	chr8:49060600-49061800	Weak transcription	NHEK	skin
16	chr8:49060600-49062000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:49061200-49062600	Enhancers	Fetal Muscle Trunk	muscle
18	chr8:49061200-49062600	Enhancers	HepG2	liver
19	chr8:49061200-49064200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:49061400-49062800	Enhancers	Adipose Nuclei	Adipose
21	chr8:49061400-49064200	Enhancers	Muscle Satellite Cultured Cells	--

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