Variant report

Variant	rs73274117
Chromosome Location	chr12:44641468-44641469
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs73272279	0.82[AFR][1000 genomes]
rs73274105	1.00[AFR][1000 genomes]
rs73274108	1.00[AFR][1000 genomes]
rs73274134	1.00[AFR][1000 genomes]
rs73274173	0.81[AFR][1000 genomes]
rs73274177	1.00[AFR][1000 genomes]
rs73274180	1.00[AFR][1000 genomes]
rs73290279	0.82[AFR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44612000-44655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44634200-44641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44635800-44643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:44640200-44642200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:44640800-44641800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:44641000-44643800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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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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