Variant report

Variant	rs56199684
Chromosome Location	chr1:222084405-222084406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10746414	1.00[ASN][1000 genomes]
rs11118883	1.00[ASN][1000 genomes]
rs11118890	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118891	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11118893	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11577023	1.00[ASN][1000 genomes]
rs11579212	0.85[EUR][1000 genomes]
rs11579232	0.90[EUR][1000 genomes]
rs12126771	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126886	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127506	0.91[EUR][1000 genomes]
rs12137702	1.00[ASN][1000 genomes]
rs12726661	1.00[ASN][1000 genomes]
rs12731429	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12738322	1.00[ASN][1000 genomes]
rs12748885	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35192818	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4129271	1.00[ASN][1000 genomes]
rs6673317	0.91[EUR][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	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:222071200-222085400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:222075200-222097400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr1:222079200-222085200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr1:222081200-222085600	Weak transcription	Osteobl	bone
5	chr1:222081200-222097600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:222082600-222085600	Weak transcription	HSMM	muscle
7	chr1:222083200-222092600	Weak transcription	HSMMtube	muscle
8	chr1:222083600-222092400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:222084200-222084800	Enhancers	Esophagus	oesophagus
10	chr1:222084400-222085400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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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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