Variant report

Variant	rs2654819
Chromosome Location	chr3:147075359-147075360
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10513309	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10935665	0.82[EUR][1000 genomes]
rs1394046	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1500867	0.85[EUR][1000 genomes]
rs1503733	0.81[YRI][hapmap]
rs17567518	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2133939	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2651315	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2651316	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2654820	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4681356	0.84[AMR][1000 genomes]
rs62275345	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7622107	0.81[YRI][hapmap]
rs7629647	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7639019	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs884370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385588	chr3:146782324-147083081	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1013080	chr3:147008962-147167690	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv536763	chr3:147008962-147167690	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:147074000-147075400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:147074600-147075400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
3	chr3:147074600-147075400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
4	chr3:147074800-147075400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr3:147074800-147076400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr3:147075000-147075400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr3:147075000-147075400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr3:147075200-147075600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
9	chr3:147075200-147076600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell

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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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