Variant report

Variant	rs58226675
Chromosome Location	chr1:102263557-102263558
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11801608	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11808160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125434	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17125441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6669591	0.87[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	nsv522921	chr1:102170295-102876392	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv871513	chr1:102243101-102302831	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv871555	chr1:102255522-102304094	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:102258600-102264000	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:102263200-102263600	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr1:102263400-102264200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:102263400-102264800	Enhancers	H9 Derived Neuron 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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