Variant report

Variant	rs2056604
Chromosome Location	chr3:134312648-134312649
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 228 )
Associated
traits (count: 24 )

rSNPs within LD-proxies of this variant (count:221)

rs_ID	r²[population]
rs10804632	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10935120	0.84[ASN][1000 genomes]
rs10935123	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1138273	0.81[ASN][1000 genomes]
rs11706117	0.81[ASN][1000 genomes]
rs11708531	0.84[ASN][1000 genomes]
rs11915964	0.91[EUR][1000 genomes]
rs11919350	0.81[ASN][1000 genomes]
rs11919458	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11927068	0.81[ASN][1000 genomes]
rs11927539	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11927540	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11928499	0.81[ASN][1000 genomes]
rs12490835	0.81[ASN][1000 genomes]
rs12492930	0.84[ASN][1000 genomes]
rs12637301	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12637751	0.81[ASN][1000 genomes]
rs13059720	0.81[ASN][1000 genomes]
rs13064209	0.82[EUR][1000 genomes]
rs13065405	0.81[ASN][1000 genomes]
rs13065773	0.83[ASN][1000 genomes]
rs13071551	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13075117	0.82[EUR][1000 genomes]
rs13075253	0.83[EUR][1000 genomes]
rs13076825	0.88[EUR][1000 genomes]
rs13081177	0.83[ASN][1000 genomes]
rs13081688	0.81[ASN][1000 genomes]
rs13084192	0.82[EUR][1000 genomes]
rs13087875	0.81[ASN][1000 genomes]
rs13088413	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13089566	0.91[EUR][1000 genomes]
rs13089966	0.83[ASN][1000 genomes]
rs13096604	0.81[ASN][1000 genomes]
rs13098546	0.83[EUR][1000 genomes]
rs13316205	0.82[ASN][1000 genomes]
rs13322305	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1357762	0.84[ASN][1000 genomes]
rs1357764	0.90[EUR][1000 genomes]
rs1404289	0.82[EUR][1000 genomes]
rs1534025	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1534026	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534027	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1534028	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1534029	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1534030	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17694011	0.84[ASN][1000 genomes]
rs1814337	0.81[ASN][1000 genomes]
rs1863913	0.81[ASN][1000 genomes]
rs1880374	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1880375	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1880376	0.81[ASN][1000 genomes]
rs1880377	0.81[ASN][1000 genomes]
rs1880378	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1880379	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1917130	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2056603	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177601	0.81[ASN][1000 genomes]
rs2177602	0.84[ASN][1000 genomes]
rs2293293	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2293294	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2370641	0.84[ASN][1000 genomes]
rs2370642	0.81[ASN][1000 genomes]
rs2373865	0.83[ASN][1000 genomes]
rs28409322	0.81[ASN][1000 genomes]
rs28702610	0.82[ASN][1000 genomes]
rs2888670	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35718987	0.83[ASN][1000 genomes]
rs35933983	0.83[ASN][1000 genomes]
rs36006513	0.83[ASN][1000 genomes]
rs3846056	0.84[ASN][1000 genomes]
rs4074521	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4074522	0.88[EUR][1000 genomes]
rs4074523	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4245903	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4245904	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4245905	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4245907	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4245908	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4306899	0.83[EUR][1000 genomes]
rs4306900	0.83[EUR][1000 genomes]
rs4309773	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4318591	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4367113	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4417907	0.83[ASN][1000 genomes]
rs4435681	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4435682	0.91[EUR][1000 genomes]
rs4437193	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4456908	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4519744	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4535271	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4539979	0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4543053	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4572812	0.81[ASN][1000 genomes]
rs4605591	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4634170	0.83[EUR][1000 genomes]
rs4955468	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4955485	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4955525	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4955526	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4955534	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4955542	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4955544	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4955545	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4955546	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4955547	0.83[EUR][1000 genomes]
rs4955548	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4955555	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4974483	0.84[ASN][1000 genomes]
rs4974484	0.81[ASN][1000 genomes]
rs4974493	0.81[ASN][1000 genomes]
rs55835132	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55913793	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56899746	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58491661	0.91[EUR][1000 genomes]
rs58808286	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62269547	0.84[ASN][1000 genomes]
rs62269560	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6439484	0.84[ASN][1000 genomes]
rs6439487	0.82[ASN][1000 genomes]
rs6763088	0.81[ASN][1000 genomes]
rs6763093	0.81[ASN][1000 genomes]
rs6763188	0.91[EUR][1000 genomes]
rs6764764	0.83[EUR][1000 genomes]
rs6766818	0.81[ASN][1000 genomes]
rs6768323	0.81[ASN][1000 genomes]
rs6769885	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6772406	0.82[ASN][1000 genomes]
rs6775611	0.91[EUR][1000 genomes]
rs6776203	0.84[ASN][1000 genomes]
rs6779294	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6779326	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6782128	0.86[ASN][1000 genomes]
rs6782563	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6785027	0.84[ASN][1000 genomes]
rs6787371	0.82[ASN][1000 genomes]
rs6793487	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6794258	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6799543	0.81[ASN][1000 genomes]
rs6800862	0.84[ASN][1000 genomes]
rs6801596	0.84[ASN][1000 genomes]
rs6802654	0.84[ASN][1000 genomes]
rs6804770	0.84[ASN][1000 genomes]
rs6806417	0.84[ASN][1000 genomes]
rs6806810	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6808670	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs7371896	0.84[ASN][1000 genomes]
rs7373874	0.81[ASN][1000 genomes]
rs7374158	0.84[ASN][1000 genomes]
rs7374325	0.83[ASN][1000 genomes]
rs7427492	0.81[ASN][1000 genomes]
rs7428326	0.84[ASN][1000 genomes]
rs7429866	0.81[ASN][1000 genomes]
rs7430034	0.81[EUR][1000 genomes]
rs7432268	0.81[ASN][1000 genomes]
rs7433663	0.83[ASN][1000 genomes]
rs7433991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7611611	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7611828	0.82[ASN][1000 genomes]
rs7619451	0.81[ASN][1000 genomes]
rs7623567	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7626557	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7630874	0.83[ASN][1000 genomes]
rs7633868	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7637227	0.84[ASN][1000 genomes]
rs7641798	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7642266	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7648616	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7648990	0.84[ASN][1000 genomes]
rs7653807	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7653880	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9289471	0.84[ASN][1000 genomes]
rs9289475	0.84[ASN][1000 genomes]
rs9289476	0.84[ASN][1000 genomes]
rs9289478	0.84[ASN][1000 genomes]
rs9756173	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9809344	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9809619	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9813774	0.84[ASN][1000 genomes]
rs9815297	0.84[ASN][1000 genomes]
rs9815894	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9815983	0.83[ASN][1000 genomes]
rs9819532	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9820150	0.81[ASN][1000 genomes]
rs9820425	0.81[ASN][1000 genomes]
rs9824185	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9826496	0.84[ASN][1000 genomes]
rs9827987	0.83[ASN][1000 genomes]
rs9828815	0.84[ASN][1000 genomes]
rs9829092	0.81[ASN][1000 genomes]
rs9832785	0.81[ASN][1000 genomes]
rs9833753	0.84[ASN][1000 genomes]
rs9835204	0.84[ASN][1000 genomes]
rs9836401	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9838119	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9838467	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9838621	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9838889	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9839705	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9841371	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9844537	0.84[ASN][1000 genomes]
rs9846111	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9848254	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9850015	0.81[ASN][1000 genomes]
rs9851441	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9853860	0.80[EUR][1000 genomes]
rs9855013	0.84[ASN][1000 genomes]
rs9857242	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9857995	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9863786	0.81[ASN][1000 genomes]
rs9864346	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9869981	0.84[ASN][1000 genomes]
rs9870262	0.81[ASN][1000 genomes]
rs9871226	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9871305	0.81[ASN][1000 genomes]
rs9883753	0.84[ASN][1000 genomes]
rs9884031	0.84[ASN][1000 genomes]
rs9968172	0.81[ASN][1000 genomes]
rs9985341	0.84[ASN][1000 genomes]
rs9985356	0.84[ASN][1000 genomes]
rs9989967	0.84[ASN][1000 genomes]
rs9990351	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877510	chr3:134126150-134400448	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv877511	chr3:134174071-134358947	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv877512	chr3:134174071-134372486	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv877513	chr3:134174071-134379752	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv877514	chr3:134191938-134372486	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv829730	chr3:134199097-134359544	Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv1002382	chr3:134239191-134358001	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:24)

SNP	Gene	Cis/trans	Tissue	Source
rs2056604	ANAPC13	cis	Artery Aorta	GTEx
rs2056604	ANAPC13	cis	multi-tissue	Pritchard
rs2056604	CEP63	cis	Esophagus Muscularis	GTEx
rs2056604	CEP63	cis	Artery Tibial	GTEx
rs2056604	ANAPC13	cis	Skin Sun Exposed Lower leg	GTEx
rs2056604	ANAPC13	cis	Adipose Subcutaneous	GTEx
rs2056604	ANAPC13	cis	Stomach	GTEx
rs2056604	ANAPC13	cis	Heart Left Ventricle	GTEx
rs2056604	CEP63	Cis_1M	lymphoblastoid	RTeQTL
rs2056604	ANAPC13	Cis_1M	lymphoblastoid	RTeQTL
rs2056604	CEP63	cis	lung	GTEx
rs2056604	ANAPC13	cis	Whole Blood	GTEx
rs2056604	CEP63	cis	Whole Blood	GTEx
rs2056604	CEP63	cis	Esophagus Mucosa	GTEx
rs2056604	ANAPC13	cis	Esophagus Mucosa	GTEx
rs2056604	CEP63	cis	Muscle Skeletal	GTEx
rs2056604	ANAPC13	cis	Esophagus Muscularis	GTEx
rs2056604	ANAPC13	cis	Artery Tibial	GTEx
rs2056604	ANAPC13	cis	lung	GTEx
rs2056604	CEP63	cis	Nerve Tibial	GTEx
rs2056604	ANAPC13	cis	Nerve Tibial	GTEx
rs2056604	ANAPC13	cis	Muscle Skeletal	GTEx
rs2056604	ANAPC13	cis	Thyroid	GTEx
rs2056604	CEP63	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:134310000-134314200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr3:134311600-134320400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr3:134312400-134313200	Active TSS	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links