Variant report

Variant	rs13058040
Chromosome Location	chr22:31219223-31219224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31218130..31220095-chr22:31317473..31320044,2	MCF-7	breast:
2	chr11:65189805..65190777-chr22:31218762..31219533,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000245532	Chromatin interaction
ENSG00000235989	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs136221	0.80[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4443	0.82[AFR][1000 genomes]
rs5994347	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs738373	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs738374	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs738375	0.87[AMR][1000 genomes]
rs8137925	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[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	chr22:31217400-31219400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr22:31217800-31219400	Bivalent Enhancer	Fetal Brain Male	brain
3	chr22:31218800-31219400	Flanking Active TSS	Brain Anterior Caudate	brain
4	chr22:31218800-31220000	Enhancers	NHEK	skin
5	chr22:31218800-31222400	Weak transcription	A549	lung
6	chr22:31219000-31219400	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr22:31219000-31219400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr22:31219000-31219400	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr22:31219000-31219400	Bivalent Enhancer	Fetal Intestine Large	intestine
10	chr22:31219000-31221400	Weak transcription	Pancreas	Pancrea
11	chr22:31219000-31223200	Weak transcription	HSMM	muscle
12	chr22:31219000-31224600	Weak transcription	HSMMtube	muscle
13	chr22:31219200-31219400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
14	chr22:31219200-31219400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
15	chr22:31219200-31219400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr22:31219200-31219400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:31219200-31219400	Enhancers	Brain Cingulate Gyrus	brain
18	chr22:31219200-31219400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr22:31219200-31219400	Transcr. at gene 5' and 3'	Hela-S3	cervix
20	chr22:31219200-31219600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr22:31219200-31220200	Enhancers	Brain Hippocampus Middle	brain
22	chr22:31219200-31220400	Enhancers	Brain Angular Gyrus	brain
23	chr22:31219200-31221400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:31219200-31221400	Weak transcription	Brain Substantia Nigra	brain
25	chr22:31219200-31224600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:31219200-31224800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr22:31219200-31225800	Weak transcription	Gastric	stomach

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