Variant report

Variant	rs1322930
Chromosome Location	chr1:78968452-78968453
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1265657	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1265663	1.00[AMR][1000 genomes]
rs1322932	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1322936	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1333979	1.00[AMR][1000 genomes]
rs1412846	1.00[AMR][1000 genomes]
rs17101751	1.00[AMR][1000 genomes]
rs17101783	1.00[AMR][1000 genomes]
rs494131	1.00[AMR][1000 genomes]
rs559854	1.00[AMR][1000 genomes]
rs564407	1.00[AMR][1000 genomes]
rs569846	1.00[AMR][1000 genomes]
rs581338	1.00[AMR][1000 genomes]
rs599583	1.00[AMR][1000 genomes]
rs601137	1.00[AMR][1000 genomes]
rs602865	1.00[AMR][1000 genomes]
rs640003	1.00[AMR][1000 genomes]
rs645528	1.00[AMR][1000 genomes]
rs663485	1.00[AMR][1000 genomes]
rs676130	1.00[AMR][1000 genomes]
rs689110	1.00[AMR][1000 genomes]
rs7516567	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	nsv871835	chr1:78528803-79501129	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv870807	chr1:78867347-79032598	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv871260	chr1:78957859-78976570	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78962400-78973800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:78963400-78975800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:78964000-78969200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr1:78966400-78969200	Weak transcription	NHDF-Ad	bronchial
5	chr1:78967000-78969400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:78967400-78968800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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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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