Variant report

Variant	rs12464736
Chromosome Location	chr2:53746528-53746529
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11125506	0.92[ASN][1000 genomes]
rs11887320	0.90[ASN][1000 genomes]
rs11887357	0.90[ASN][1000 genomes]
rs11887437	0.92[ASN][1000 genomes]
rs11896866	0.92[ASN][1000 genomes]
rs11899265	0.92[ASN][1000 genomes]
rs11902012	0.91[ASN][1000 genomes]
rs12469032	0.88[ASN][1000 genomes]
rs12475602	0.90[ASN][1000 genomes]
rs17044875	0.95[ASN][1000 genomes]
rs17044876	0.91[ASN][1000 genomes]
rs2287510	0.92[ASN][1000 genomes]
rs2287511	0.90[ASN][1000 genomes]
rs57960101	0.95[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs61482714	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002145	chr2:53387912-53832213	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv535718	chr2:53387912-53832213	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv997401	chr2:53515629-53863347	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv999571	chr2:53690538-53775723	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1012754	chr2:53690538-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv457873	chr2:53701324-53785037	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv582009	chr2:53701324-53785037	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv457886	chr2:53722595-53835083	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv582010	chr2:53722595-53835083	Enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv1812833	chr2:53744110-53765801	Enhancers Active TSS Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53737400-53747200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:53740000-53747400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:53742400-53747600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:53743400-53747800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:53743600-53747400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:53743800-53746600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:53743800-53747000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:53744400-53747000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:53745000-53747000	Weak transcription	Fetal Brain Female	brain
10	chr2:53745200-53746600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:53745200-53747000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:53745200-53747000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:53745400-53747000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr2:53745600-53747200	Weak transcription	Fetal Brain Male	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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