Variant report

Variant	rs45490494
Chromosome Location	chr11:45688136-45688137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11826638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11827784	0.82[AFR][1000 genomes]
rs1562461	0.83[AFR][1000 genomes]
rs2028985	0.82[AFR][1000 genomes]
rs41372752	0.92[AFR][1000 genomes]
rs45460198	0.92[AFR][1000 genomes]
rs45478798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs45525032	0.86[AFR][1000 genomes]
rs45554232	0.97[AFR][1000 genomes]
rs4756014	0.82[AFR][1000 genomes]
rs895718	0.91[AFR][1000 genomes]
rs895730	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897311	chr11:45663568-45691118	Bivalent Enhancer Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv897312	chr11:45663568-45699134	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv897313	chr11:45670395-45699134	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv467870	chr11:45684557-45757401	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv554199	chr11:45684557-45757401	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	esv3333567	chr11:45685776-45688474	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45686200-45688200	Active TSS	Fetal Brain Female	brain
2	chr11:45687200-45689400	Enhancers	HSMMtube	muscle
3	chr11:45687200-45699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:45687600-45688200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:45687600-45688200	Flanking Active TSS	Brain Cingulate Gyrus	brain
6	chr11:45687600-45688800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr11:45687600-45688800	Enhancers	Brain Substantia Nigra	brain
8	chr11:45687600-45689000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr11:45687600-45689000	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr11:45687600-45689600	Bivalent Enhancer	Fetal Stomach	stomach
11	chr11:45687600-45692000	Weak transcription	Pancreas	Pancrea
12	chr11:45687800-45688400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:45687800-45688800	Enhancers	Brain Angular Gyrus	brain
14	chr11:45687800-45688800	Enhancers	Brain Anterior Caudate	brain
15	chr11:45687800-45688800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:45687800-45689000	Enhancers	Brain Hippocampus Middle	brain
17	chr11:45687800-45692400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:45688000-45688200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr11:45688000-45700600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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

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