Variant report

Variant	rs12484511
Chromosome Location	chr22:30988762-30988763
allele	C/T
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:6)

rs_ID	r²[population]
rs11912660	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2412993	0.83[AFR][1000 genomes]
rs4820017	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4820879	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73881478	0.81[EUR][1000 genomes]
rs73881482	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
3	nsv588887	chr22:30953521-30995356	Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv834175	chr22:30976624-31089545	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30988000-30992800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:30988000-31001400	Weak transcription	Lung	lung
3	chr22:30988200-30988800	Enhancers	Primary B cells from peripheral blood	blood
4	chr22:30988400-30990800	Weak transcription	Pancreas	Pancrea
5	chr22:30988400-30992800	Weak transcription	Gastric	stomach
6	chr22:30988600-30988800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr22:30988600-30990400	Weak transcription	Stomach Mucosa	stomach
8	chr22:30988600-30991600	Weak transcription	HepG2	liver
9	chr22:30988600-31001400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr22:30988600-31001400	Weak transcription	Right Atrium	heart
11	chr22:30988600-31001400	Weak transcription	HUVEC	blood vessel

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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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