Variant report

Variant	rs3112925
Chromosome Location	chr2:180431851-180431852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs17749412	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55680850	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73976413	0.83[AMR][1000 genomes]
rs73976414	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7594895	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv875470	chr2:180400021-180432529	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 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	chr2:180415800-180432400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:180427400-180436400	Weak transcription	Psoas Muscle	Psoas
3	chr2:180428000-180434000	Weak transcription	HepG2	liver
4	chr2:180428000-180435200	Weak transcription	Fetal Kidney	kidney
5	chr2:180428200-180432400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr2:180429000-180432800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr2:180430400-180434200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:180431200-180432400	Weak transcription	HSMMtube	muscle

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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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