Variant report

Variant	rs4894131
Chromosome Location	chr2:180728060-180728061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10153833	0.81[CEU][hapmap]
rs10169684	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10185471	0.81[MEX][hapmap]
rs10205122	0.88[ASN][1000 genomes]
rs10211004	0.96[CEU][hapmap];0.90[TSI][hapmap];0.91[EUR][1000 genomes]
rs13407401	0.84[ASN][1000 genomes]
rs13411964	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1352111	0.81[CEU][hapmap]
rs165374	0.81[CEU][hapmap]
rs165379	0.81[CEU][hapmap]
rs165380	0.81[CEU][hapmap]
rs2367797	0.88[CEU][hapmap];0.88[TSI][hapmap];0.80[EUR][1000 genomes]
rs357712	0.81[CEU][hapmap]
rs357714	0.81[CEU][hapmap]
rs4894130	0.84[ASN][1000 genomes]
rs56008592	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56291671	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588035	0.88[CEU][hapmap];0.81[EUR][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	nsv1002305	chr2:180568558-180812846	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
2	nsv428731	chr2:180629389-180805171	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv875472	chr2:180696414-181024926	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
4	nsv875473	chr2:180696414-181055597	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180727000-180728200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:180727600-180728200	Bivalent Enhancer	Fetal Muscle Leg	muscle
3	chr2:180727600-180728200	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr2:180728000-180728200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr2:180728000-180728200	Active TSS	Stomach Smooth Muscle	stomach

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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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