Variant report

Variant	rs9919773
Chromosome Location	chr12:41341630-41341631
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1056019	0.82[EUR][1000 genomes]
rs1372539	0.80[EUR][1000 genomes]
rs1372541	0.80[EUR][1000 genomes]
rs1442193	0.82[EUR][1000 genomes]
rs6582087	0.82[EUR][1000 genomes]
rs7131810	0.81[AMR][1000 genomes]
rs7303364	0.83[EUR][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	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv826346	chr12:41313148-41374833	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41297400-41346400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41317800-41356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:41318400-41341800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:41321800-41344600	Weak transcription	Ovary	ovary
5	chr12:41333400-41352800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:41339000-41365600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:41339800-41346800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:41341400-41342600	Enhancers	A549	lung
9	chr12:41341600-41342800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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