Variant report

Variant	rs2814076
Chromosome Location	chr1:227680257-227680258
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1495844	1.00[AMR][1000 genomes]
rs1495854	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1587156	1.00[AMR][1000 genomes]
rs1988973	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2246657	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2453681	1.00[AMR][1000 genomes]
rs2644148	1.00[AMR][1000 genomes]
rs2644152	1.00[AMR][1000 genomes]
rs2644155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814058	1.00[AMR][1000 genomes]
rs2814065	1.00[AMR][1000 genomes]
rs2814083	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2819499	1.00[AMR][1000 genomes]
rs2819504	1.00[AMR][1000 genomes]
rs2935150	1.00[AMR][1000 genomes]
rs2999749	1.00[AMR][1000 genomes]
rs3010189	1.00[AMR][1000 genomes]
rs57057216	1.00[AMR][1000 genomes]
rs61745453	1.00[AMR][1000 genomes]
rs903688	1.00[AMR][1000 genomes]
rs963297	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr1:227679600-227680400	Enhancers	Fetal Muscle Leg	muscle
2	chr1:227679800-227680400	Enhancers	Fetal Muscle Trunk	muscle
3	chr1:227680200-227680800	Enhancers	Placenta	Placenta

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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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