Variant report

Variant	rs71331244
Chromosome Location	chr22:30939470-30939471
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs35503583	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv966101	chr22:30939266-30940774	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30938400-30939600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr22:30938800-30940000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr22:30938800-30940000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:30939000-30949800	Weak transcription	Brain Angular Gyrus	brain
5	chr22:30939000-30950800	Weak transcription	Pancreas	Pancrea
6	chr22:30939000-30951400	Weak transcription	Ovary	ovary
7	chr22:30939000-30962000	Weak transcription	Liver	Liver
8	chr22:30939200-30940000	Enhancers	Lung	lung
9	chr22:30939200-30949800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr22:30939200-30951000	Weak transcription	Brain Substantia Nigra	brain
11	chr22:30939200-30951000	Weak transcription	Gastric	stomach
12	chr22:30939400-30939600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
13	chr22:30939400-30950200	Weak transcription	Brain Anterior Caudate	brain

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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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