Variant report

Variant	rs2246657
Chromosome Location	chr1:227641569-227641570
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:20)

rs_ID	r²[population]
rs1495844	1.00[AMR][1000 genomes]
rs1495854	1.00[AMR][1000 genomes]
rs1587156	1.00[AMR][1000 genomes]
rs1988973	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	0.87[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	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs963297	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	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227635800-227641800	Weak transcription	Brain Anterior Caudate	brain
2	chr1:227635800-227654000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:227639400-227653600	Weak transcription	Right Atrium	heart
4	chr1:227641200-227641600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr1:227641200-227643000	Enhancers	Fetal Muscle Leg	muscle

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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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