Variant report

Variant	rs73402267
Chromosome Location	chr22:31224149-31224150
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs55841013	1.00[AMR][1000 genomes]
rs55858102	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56104306	1.00[AMR][1000 genomes]
rs57021529	1.00[AMR][1000 genomes]
rs58198077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58511316	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58832459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58902211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59786430	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60486108	1.00[AMR][1000 genomes]
rs61467505	1.00[AMR][1000 genomes]
rs6518715	1.00[AMR][1000 genomes]
rs6518716	1.00[AMR][1000 genomes]
rs6518717	1.00[AMR][1000 genomes]
rs7284316	0.93[AFR][1000 genomes]
rs7289612	1.00[AMR][1000 genomes]
rs73402248	1.00[AMR][1000 genomes]
rs73402291	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137788	1.00[AMR][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	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
2	nsv588888	chr22:31212641-31249333	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31219000-31224600	Weak transcription	HSMMtube	muscle
2	chr22:31219200-31224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:31219200-31224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:31219200-31225800	Weak transcription	Gastric	stomach
5	chr22:31220400-31224200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr22:31221000-31224600	Weak transcription	Spleen	Spleen
7	chr22:31221600-31227200	Enhancers	Brain Angular Gyrus	brain
8	chr22:31221800-31226000	Weak transcription	Brain Anterior Caudate	brain
9	chr22:31222000-31226000	Weak transcription	Brain Substantia Nigra	brain
10	chr22:31222400-31225600	Enhancers	A549	lung
11	chr22:31222400-31226000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:31222400-31226200	Weak transcription	Brain Hippocampus Middle	brain
13	chr22:31222600-31224600	Genic enhancers	NHEK	skin
14	chr22:31222600-31225800	Weak transcription	Esophagus	oesophagus
15	chr22:31222600-31227000	Weak transcription	Pancreas	Pancrea
16	chr22:31223200-31227600	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr22:31223400-31224200	Weak transcription	HSMM	muscle
18	chr22:31223400-31225000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr22:31223600-31224400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
20	chr22:31223800-31224800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr22:31224000-31224600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr22:31224000-31225200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr22:31224000-31226400	Enhancers	Hela-S3	cervix

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