Variant report

Variant	rs11714518
Chromosome Location	chr3:48156635-48156636
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 15 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1013431	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10446426	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1060407	0.92[CEU][hapmap];0.94[JPT][hapmap]
rs11130152	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs11130154	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11130155	0.87[CEU][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11710866	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11720151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11720973	0.81[EUR][1000 genomes]
rs11924107	0.81[AMR][1000 genomes]
rs12486714	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12493348	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13074973	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13075457	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13075795	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13080997	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13081463	0.80[AMR][1000 genomes]
rs13085054	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13089844	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1530646	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1550914	0.82[EUR][1000 genomes]
rs2034963	0.95[EUR][1000 genomes]
rs2053767	0.82[EUR][1000 genomes]
rs2121754	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2166770	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.82[EUR][1000 genomes]
rs2166772	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2361683	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2361684	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28637561	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34597784	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35314534	0.82[EUR][1000 genomes]
rs35689209	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4293721	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4296617	0.82[EUR][1000 genomes]
rs4392441	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4599334	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4858810	0.92[CEU][hapmap]
rs4858876	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858880	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4858881	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4858887	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs5012971	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56067795	0.81[AMR][1000 genomes]
rs62260830	0.80[AMR][1000 genomes]
rs6442090	0.82[EUR][1000 genomes]
rs6442091	0.82[EUR][1000 genomes]
rs6442099	0.81[AMR][1000 genomes]
rs6442101	0.96[CEU][hapmap];0.94[JPT][hapmap];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6442102	1.00[CEU][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67536946	0.83[EUR][1000 genomes]
rs6766641	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6770467	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6770477	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6773208	0.81[EUR][1000 genomes]
rs6777081	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6791834	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6793477	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6803741	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs6804520	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6806820	0.81[EUR][1000 genomes]
rs7374482	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7374516	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[EUR][1000 genomes]
rs7426976	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7427418	0.88[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7427648	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7430879	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7430913	0.96[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7620736	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7627645	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7642590	0.96[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7649981	0.82[EUR][1000 genomes]
rs936428	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9811277	0.82[EUR][1000 genomes]
rs9814961	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9825114	1.00[CEU][hapmap];0.83[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9846062	0.82[EUR][1000 genomes]
rs9854454	0.82[EUR][1000 genomes]
rs9860485	0.81[EUR][1000 genomes]
rs9862913	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529989	chr3:47909480-48301481	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1001056	chr3:47912342-48223849	Genic enhancers Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1827272	chr3:47912703-48260968	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1009243	chr3:47935331-48340448	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv536562	chr3:47935331-48340448	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv1012828	chr3:47996472-48192862	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
7	nsv1002067	chr3:47996472-48326518	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv876760	chr3:48019258-48197614	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv834681	chr3:48032000-48181775	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv1004557	chr3:48056534-48256694	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS Genic 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv1012024	chr3:48119229-48242670	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
12	nsv834682	chr3:48138137-48311122	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

mRNA abundance (count:15)

SNP	Gene	Cis/trans	Tissue	Source
rs11714518	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs11714518	CDC25A	cis	Muscle Skeletal	GTEx
rs11714518	CDC25A	cis	Thyroid	GTEx
rs11714518	ZNF589	cis	Nerve Tibial	GTEx
rs11714518	ZNF589	cis	multi-tissue	Pritchard
rs11714518	MRPS18AP1	cis	Nerve Tibial	GTEx
rs11714518	MRPS18AP1	cis	Artery Tibial	GTEx
rs11714518	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs11714518	MRPS18AP1	cis	lung	GTEx
rs11714518	NME6	Cis_1M	lymphoblastoid	RTeQTL
rs11714518	ZNF589	cis	Adipose Subcutaneous	GTEx
rs11714518	NME6	cis	Esophagus Muscularis	GTEx
rs11714518	ZNF589	cis	Esophagus Mucosa	GTEx
rs11714518	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs11714518	MRPS18AP1	cis	Thyroid	GTEx

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48141400-48166800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:48149200-48162400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:48154600-48157200	Weak transcription	Fetal Heart	heart
4	chr3:48154600-48157400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr3:48154600-48159200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr3:48154600-48159600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:48154600-48160000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr3:48154800-48157600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:48154800-48157600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr3:48154800-48157600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr3:48154800-48166400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr3:48155000-48157600	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr3:48155000-48160600	Weak transcription	Right Atrium	heart
14	chr3:48155400-48159800	Weak transcription	GM12878-XiMat	blood
15	chr3:48155600-48159800	Weak transcription	Ovary	ovary
16	chr3:48156600-48156800	Enhancers	Primary hematopoietic stem cells	blood
17	chr3:48156600-48156800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr3:48156600-48156800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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