Variant report

Variant	rs10497289
Chromosome Location	chr2:167376830-167376831
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13019091	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1447223	0.98[ASN][1000 genomes]
rs1447224	0.98[ASN][1000 genomes]
rs34422978	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34484001	0.81[AMR][1000 genomes]
rs7422259	0.98[ASN][1000 genomes]
rs7594117	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532474	chr2:166993501-167548531	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv529384	chr2:167143465-167958752	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv2752480	chr2:167163493-167567493	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv508176	chr2:167354385-167390288	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:167371400-167377200	Weak transcription	Fetal Lung	lung
2	chr2:167375400-167377000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr2:167375800-167377000	Enhancers	Rectal Smooth Muscle	rectum
4	chr2:167376400-167377400	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:167376400-167377600	Enhancers	Fetal Heart	heart

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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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