Variant report

Variant	rs5753335
Chromosome Location	chr22:31225292-31225293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31224247..31227135-chr22:31248254..31250701,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs13055067	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs136232	0.95[ASN][1000 genomes]
rs136233	0.81[ASN][1000 genomes]
rs57084031	0.80[ASN][1000 genomes]
rs5749166	0.81[EUR][1000 genomes]
rs5749167	0.83[ASN][1000 genomes]
rs5749169	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5749171	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749173	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753334	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753336	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753337	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753340	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs5753341	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753348	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57707485	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61049226	0.83[ASN][1000 genomes]
rs62235916	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62235942	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs742205	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31219200-31225800	Weak transcription	Gastric	stomach
2	chr22:31221600-31227200	Enhancers	Brain Angular Gyrus	brain
3	chr22:31221800-31226000	Weak transcription	Brain Anterior Caudate	brain
4	chr22:31222000-31226000	Weak transcription	Brain Substantia Nigra	brain
5	chr22:31222400-31225600	Enhancers	A549	lung
6	chr22:31222400-31226000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr22:31222400-31226200	Weak transcription	Brain Hippocampus Middle	brain
8	chr22:31222600-31225800	Weak transcription	Esophagus	oesophagus
9	chr22:31222600-31227000	Weak transcription	Pancreas	Pancrea
10	chr22:31223200-31227600	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr22:31224000-31226400	Enhancers	Hela-S3	cervix
12	chr22:31224400-31227600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr22:31224600-31226200	Enhancers	NHEK	skin
14	chr22:31224600-31226400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:31224800-31225400	Weak transcription	NHDF-Ad	bronchial
16	chr22:31224800-31225600	Weak transcription	HSMMtube	muscle
17	chr22:31224800-31225800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr22:31224800-31228200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:31225000-31225400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:31225000-31225400	Weak transcription	HSMM	muscle
21	chr22:31225000-31225800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:31225000-31226200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr22:31225000-31226400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:31225000-31228000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr22:31225000-31228200	Enhancers	HMEC	breast
26	chr22:31225200-31226400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr22:31225200-31226800	Weak transcription	Spleen	Spleen

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