Variant report

Variant	rs2054616
Chromosome Location	chr2:213355863-213355864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs16848705	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16848714	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16848717	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16848720	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2054618	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2128319	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs59399497	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59677351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59989514	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73063172	1.00[AMR][1000 genomes]
rs73063184	0.92[AFR][1000 genomes]
rs73067093	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73067101	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069012	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069015	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069020	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73069023	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7568478	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213353400-213356200	Weak transcription	Brain Hippocampus Middle	brain
2	chr2:213353400-213362200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213353800-213356600	Weak transcription	Brain Angular Gyrus	brain
4	chr2:213354000-213356200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:213354200-213359800	Weak transcription	Fetal Kidney	kidney
6	chr2:213355400-213356200	Enhancers	Fetal Heart	heart
7	chr2:213355800-213356600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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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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