Variant report

Variant	rs57591212
Chromosome Location	chr2:233551815-233551816
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233545290..233548308-chr2:233551480..233555514,3	MCF-7	breast:
2	chr2:233551304..233553679-chr2:233557579..233559431,2	MCF-7	breast:
3	chr2:233545006..233546845-chr2:233549922..233552170,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4973051	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4973052	1.00[EUR][1000 genomes];0.96[ASN][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	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233538200-233554200	Weak transcription	Left Ventricle	heart
2	chr2:233538200-233561400	Weak transcription	Right Ventricle	heart
3	chr2:233539400-233552600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr2:233540600-233552400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr2:233540800-233554400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr2:233544800-233554400	Weak transcription	Esophagus	oesophagus
7	chr2:233546800-233552400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr2:233546800-233554400	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:233546800-233561400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr2:233547200-233554000	Weak transcription	Brain Anterior Caudate	brain
11	chr2:233547200-233554200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:233547200-233554200	Weak transcription	Ovary	ovary
13	chr2:233547400-233552200	Weak transcription	HSMMtube	muscle
14	chr2:233547400-233560600	Weak transcription	Placenta	Placenta
15	chr2:233547400-233561200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr2:233547800-233561400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:233548600-233561600	Weak transcription	Aorta	Aorta
18	chr2:233549200-233554400	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:233549200-233561200	Weak transcription	Brain Substantia Nigra	brain
20	chr2:233551400-233552600	Enhancers	HepG2	liver
21	chr2:233551400-233554400	Weak transcription	Right Atrium	heart

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