Variant report

Variant	rs74095506
Chromosome Location	chr1:84591039-84591040
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:5)

rs_ID	r²[population]
rs2139931	0.80[AFR][1000 genomes]
rs2684911	0.80[AFR][1000 genomes]
rs2812451	0.80[AFR][1000 genomes]
rs59627911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095511	0.92[AFR][1000 genomes];1.00[AMR][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	nsv546689	chr1:84531117-84670816	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv546690	chr1:84562265-84655238	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84569200-84599600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:84576000-84591800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:84584000-84592600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:84584000-84609600	Weak transcription	HSMM	muscle
5	chr1:84584000-84609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:84587600-84591400	Weak transcription	Fetal Stomach	stomach
7	chr1:84587800-84594400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:84588000-84591800	Weak transcription	Ovary	ovary
9	chr1:84588000-84618400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:84588200-84593600	Weak transcription	Brain Substantia Nigra	brain
11	chr1:84589600-84591800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:84589800-84591400	Enhancers	Fetal Heart	heart
13	chr1:84590200-84591200	Enhancers	Right Atrium	heart
14	chr1:84590200-84591200	Enhancers	Right Ventricle	heart
15	chr1:84590600-84607400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:84591000-84591400	Enhancers	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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