Variant report

Variant	rs60363102
Chromosome Location	chr2:30356719-30356720
allele	C/T
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]
rs10171126	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190925	0.90[AMR][1000 genomes]
rs13387960	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13388821	0.91[AMR][1000 genomes]
rs13401621	1.00[AMR][1000 genomes]
rs13402417	0.91[AMR][1000 genomes]
rs13403955	1.00[AMR][1000 genomes]
rs13414174	0.90[AMR][1000 genomes]
rs13415390	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs13415732	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13417286	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13419838	0.90[AMR][1000 genomes]
rs13424818	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17009140	0.83[AMR][1000 genomes]
rs6547995	0.90[AMR][1000 genomes]
rs72861874	0.90[AMR][1000 genomes]
rs7561610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7583803	0.90[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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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	32 gene(s)	inside rSNPs	diseases
2	nsv1002657	chr2:30339312-30516535	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv1794716	chr2:30356661-30370785	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30350600-30359200	Weak transcription	NHEK	skin
2	chr2:30351800-30358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:30356600-30357000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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