Variant report

Variant	rs1988973
Chromosome Location	chr1:227659693-227659694
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
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]
rs1587157	0.85[AFR][1000 genomes]
rs2246657	0.83[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814058	1.00[AMR][1000 genomes]
rs2814065	1.00[AMR][1000 genomes]
rs2814076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2814083	0.96[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]
rs903688	1.00[AMR][1000 genomes]
rs963297	0.96[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	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	nsv1001353	chr1:227474785-227660691	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1003278	chr1:227563126-227678464	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227659200-227661400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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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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