Variant report

Variant	rs73427742
Chromosome Location	chr22:28572489-28572490
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7289729	1.00[AMR][1000 genomes]
rs7293211	1.00[AMR][1000 genomes]
rs73427703	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427769	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73427770	1.00[AMR][1000 genomes]
rs73427775	1.00[AMR][1000 genomes]
rs73437891	1.00[AMR][1000 genomes]
rs73437897	1.00[AMR][1000 genomes]
rs73439834	1.00[AMR][1000 genomes]
rs8136640	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8138507	1.00[AMR][1000 genomes]
rs8140238	1.00[AMR][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	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28559800-28577400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:28567000-28577600	Weak transcription	Psoas Muscle	Psoas
3	chr22:28568200-28579000	Weak transcription	Left Ventricle	heart
4	chr22:28568800-28572600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr22:28569000-28577600	Weak transcription	Small Intestine	intestine
6	chr22:28569400-28577600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr22:28569400-28577600	Weak transcription	Ovary	ovary
8	chr22:28569400-28579200	Weak transcription	Duodenum Mucosa	Duodenum
9	chr22:28569600-28577200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr22:28569600-28577200	Weak transcription	Fetal Lung	lung
11	chr22:28570000-28577400	Weak transcription	Adipose Nuclei	Adipose
12	chr22:28570000-28581000	Weak transcription	Fetal Intestine Small	intestine
13	chr22:28571800-28572600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr22:28571800-28572600	Enhancers	NHEK	skin
15	chr22:28572000-28572600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr22:28572200-28597800	Weak transcription	Dnd41	blood
17	chr22:28572400-28577600	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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