Variant report

Variant	rs58619347
Chromosome Location	chr2:48618505-48618506
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10180074	1.00[EUR][1000 genomes]
rs13394813	1.00[EUR][1000 genomes]
rs28581888	1.00[EUR][1000 genomes]
rs56739727	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57960206	1.00[EUR][1000 genomes]
rs59217824	1.00[EUR][1000 genomes]
rs60519998	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61592994	0.89[EUR][1000 genomes]
rs6757714	1.00[EUR][1000 genomes]
rs72889649	1.00[EUR][1000 genomes]
rs72889654	1.00[EUR][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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48618000-48619400	Enhancers	Brain Anterior Caudate	brain
2	chr2:48618000-48619400	Enhancers	Brain Cingulate Gyrus	brain
3	chr2:48618200-48619400	Enhancers	Adipose Nuclei	Adipose
4	chr2:48618200-48619600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:48618200-48619600	Enhancers	Brain Hippocampus Middle	brain
6	chr2:48618400-48618600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:48618400-48618600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
8	chr2:48618400-48619200	Enhancers	HepG2	liver
9	chr2:48618400-48619400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:48618400-48619400	Enhancers	Fetal Intestine Large	intestine
11	chr2:48618400-48619400	Enhancers	Fetal Intestine Small	intestine
12	chr2:48618400-48619600	Enhancers	Brain Substantia Nigra	brain

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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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