Variant report

Variant	rs1473752
Chromosome Location	chr1:62848113-62848114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10399619	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10889327	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12729017	1.00[ASW][hapmap]
rs2065702	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4915616	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs945171	0.96[AMR][1000 genomes];0.98[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	nsv1013582	chr1:62723703-62910632	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62847400-62848600	Enhancers	HSMMtube	muscle
2	chr1:62847400-62848800	Enhancers	HSMM	muscle
3	chr1:62847600-62848400	Enhancers	Fetal Muscle Leg	muscle
4	chr1:62847600-62848400	Enhancers	Gastric	stomach
5	chr1:62847800-62848600	Enhancers	Fetal Lung	lung
6	chr1:62848000-62848200	Enhancers	Muscle Satellite Cultured Cells	--
7	chr1:62848000-62849800	Enhancers	Fetal Heart	heart
8	chr1:62848000-62850000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:62848000-62850200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:62848000-62850200	Weak transcription	NHEK	skin
11	chr1:62848000-62850400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:62848000-62850400	Weak transcription	HMEC	breast
13	chr1:62848000-62851000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr1:62848000-62855400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:62848000-62871800	Weak transcription	H1 BMP4 Derived Trophoblast 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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