Variant report

Variant	rs13390607
Chromosome Location	chr2:53772427-53772428
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10175727	0.81[AFR][1000 genomes]
rs10180436	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10196513	0.92[AFR][1000 genomes];1.00[AMR][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	nsv916267	chr2:53747525-53955999	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:53771400-53778000	Enhancers	Fetal Brain Male	brain
2	chr2:53771600-53774200	Enhancers	Fetal Brain Female	brain
3	chr2:53771600-53774600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr2:53771800-53773600	Enhancers	Brain Germinal Matrix	brain
5	chr2:53771800-53774000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:53772000-53772600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:53772000-53773200	Enhancers	HMEC	breast
8	chr2:53772000-53773200	Enhancers	NHEK	skin
9	chr2:53772200-53773200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:53772200-53774200	Enhancers	Brain Angular Gyrus	brain
11	chr2:53772200-53774800	Enhancers	Brain Hippocampus Middle	brain
12	chr2:53772400-53772600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:53772400-53772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:53772400-53773000	Enhancers	Fetal Stomach	stomach
15	chr2:53772400-53773200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:53772400-53773400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:53772400-53774000	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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