Variant report

Variant	rs57483889
Chromosome Location	chr1:221114060-221114061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1414514	1.00[AMR][1000 genomes]
rs57205215	1.00[AMR][1000 genomes]
rs57313937	1.00[AMR][1000 genomes]
rs57334435	1.00[AMR][1000 genomes]
rs60969559	1.00[AMR][1000 genomes]
rs6672121	1.00[AMR][1000 genomes]
rs6696283	1.00[AMR][1000 genomes]
rs67175231	1.00[AMR][1000 genomes]
rs67326974	1.00[AMR][1000 genomes]
rs68095121	1.00[AMR][1000 genomes]
rs7548183	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3321206	chr1:221113643-221118806	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
4	esv3321208	chr1:221113684-221118789	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
5	esv3321205	chr1:221113711-221118750	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases
6	esv3321209	chr1:221113785-221118699	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221103200-221116800	Weak transcription	Colon Smooth Muscle	Colon

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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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