Variant report

Variant	rs36053864
Chromosome Location	chr2:48619473-48619474
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11893741	0.81[AMR][1000 genomes]
rs13021354	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34439892	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34442261	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34901329	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4552233	0.84[EUR][1000 genomes]
rs57714954	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71407507	0.82[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48618200-48619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr2:48618200-48619600	Enhancers	Brain Hippocampus Middle	brain
3	chr2:48618400-48619600	Enhancers	Brain Substantia Nigra	brain
4	chr2:48619200-48622800	Weak transcription	HepG2	liver
5	chr2:48619200-48624600	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:48619400-48622400	Weak transcription	Fetal Intestine Small	intestine
7	chr2:48619400-48622800	Weak transcription	Adipose Nuclei	Adipose
8	chr2:48619400-48623000	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr2:48619400-48623000	Weak transcription	Fetal Intestine Large	intestine
10	chr2:48619400-48624000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:48619400-48624600	Weak transcription	Brain Angular Gyrus	brain
12	chr2:48619400-48624600	Weak transcription	Brain Anterior Caudate	brain
13	chr2:48619400-48624600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:48619400-48625400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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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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