Variant report

Variant	rs74139838
Chromosome Location	chr1:227026893-227026894
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16846590	0.80[AFR][1000 genomes]
rs58698650	0.80[AFR][1000 genomes]
rs59683545	0.80[AFR][1000 genomes]
rs60602411	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61103575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61185121	0.80[AFR][1000 genomes]
rs61674281	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74139805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74139812	1.00[AMR][1000 genomes]
rs74139837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74139840	1.00[AMR][1000 genomes]
rs74139842	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv4766	chr1:227025954-227070961	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227025600-227027200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:227025800-227027400	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr1:227026000-227027000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr1:227026400-227027000	Enhancers	Hela-S3	cervix
5	chr1:227026600-227028000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:227026800-227034200	Weak transcription	HMEC	breast
7	chr1:227026800-227043800	Weak transcription	H1 BMP4 Derived Mesendoderm 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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