Variant report

Variant	rs57235619
Chromosome Location	chr1:192820861-192820862
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs3845559	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56831148	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59218459	1.00[AMR][1000 genomes]
rs59770127	0.85[AMR][1000 genomes]
rs59822199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6677263	0.85[AMR][1000 genomes]
rs7522104	0.86[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	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv548660	chr1:192609268-192945348	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	esv3386987	chr1:192819539-192821168	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:192817600-192821200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr1:192819200-192821400	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr1:192820400-192821000	Enhancers	Fetal Kidney	kidney
4	chr1:192820400-192821000	Enhancers	HepG2	liver
5	chr1:192820800-192821400	Enhancers	Brain Germinal Matrix	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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