Variant report

Variant	rs2971874
Chromosome Location	chr2:54909654-54909655
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs168506	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2931463	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2931464	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2941591	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2971883	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs354187	1.00[AFR][1000 genomes]
rs354213	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs354223	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs354224	0.86[AMR][1000 genomes]
rs354226	0.88[AMR][1000 genomes]
rs354228	0.87[AMR][1000 genomes]
rs354231	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs907135	0.81[ASN][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	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv582024	chr2:54894649-54999712	Active TSS Bivalent Enhancer Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:54903400-54915600	Weak transcription	Right Atrium	heart
2	chr2:54908000-54914800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:54908200-54910800	Weak transcription	Fetal Intestine Large	intestine
4	chr2:54908200-54910800	Weak transcription	Pancreas	Pancrea
5	chr2:54908200-54910800	Weak transcription	HMEC	breast
6	chr2:54908200-54914800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:54908400-54910200	Weak transcription	HepG2	liver
8	chr2:54908800-54921400	Weak transcription	Lung	lung

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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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