Variant report

Variant	rs16823382
Chromosome Location	chr2:144728879-144728880
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12612842	1.00[ASN][1000 genomes]
rs12613814	0.90[CHB][hapmap]
rs12614766	1.00[CHB][hapmap];0.81[CHD][hapmap]
rs12618509	1.00[ASN][1000 genomes]
rs12619798	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.86[GIH][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs12621041	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1427310	0.90[CHB][hapmap]
rs16823361	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs16823373	1.00[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16823481	0.90[CHB][hapmap]
rs16823487	0.90[CHB][hapmap]
rs1861878	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs1864245	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.85[ASN][1000 genomes]
rs2111671	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.89[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs28679451	0.86[ASN][1000 genomes]
rs35790422	1.00[ASN][1000 genomes]
rs3755088	1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs3820756	0.88[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs55634187	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56090763	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56120346	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56123489	1.00[ASN][1000 genomes]
rs56136411	0.85[ASN][1000 genomes]
rs56166856	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58186643	1.00[ASN][1000 genomes]
rs60305932	1.00[ASN][1000 genomes]
rs61202373	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72851896	1.00[ASN][1000 genomes]
rs72852907	1.00[ASN][1000 genomes]
rs72852908	1.00[ASN][1000 genomes]
rs72852911	1.00[ASN][1000 genomes]
rs72852913	1.00[ASN][1000 genomes]
rs72852918	1.00[ASN][1000 genomes]
rs72852924	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72852926	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72852929	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72852930	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72852932	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72852936	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72852938	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72852941	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs72852947	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72852948	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72852967	0.86[ASN][1000 genomes]
rs72852969	0.86[ASN][1000 genomes]
rs72852985	0.86[ASN][1000 genomes]
rs73962160	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7572132	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[ASN][1000 genomes]
rs787170	0.89[ASN][1000 genomes]
rs9678811	0.91[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.93[JPT][hapmap];0.80[LWK][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:144699600-144730400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:144704800-144730800	Weak transcription	Left Ventricle	heart
3	chr2:144713600-144780000	Weak transcription	HSMMtube	muscle
4	chr2:144718200-144732000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr2:144723000-144795600	Weak transcription	Primary T cells from cord blood	blood
6	chr2:144723800-144742000	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:144724600-144741800	Weak transcription	Fetal Lung	lung
8	chr2:144726200-144780800	Weak transcription	Primary B cells from cord blood	blood

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