Variant report

Variant	rs55814729
Chromosome Location	chr1:114073133-114073134
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11802041	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74111276	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74111296	1.00[EUR][1000 genomes];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	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114062600-114076600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:114062800-114076600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:114071000-114079800	Weak transcription	A549	lung
4	chr1:114072000-114074600	Enhancers	NHDF-Ad	bronchial
5	chr1:114072200-114095800	Weak transcription	Aorta	Aorta
6	chr1:114072600-114073200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:114072600-114073200	Enhancers	Colon Smooth Muscle	Colon
8	chr1:114072600-114073200	Enhancers	Osteobl	bone
9	chr1:114072800-114073200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:114073000-114076600	Weak transcription	HSMMtube	muscle
11	chr1:114073000-114076800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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