Variant report

Variant	rs3917657
Chromosome Location	chr1:169598742-169598743
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 75 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1011266	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10919204	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10919207	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10919208	0.87[ASN][1000 genomes]
rs10919214	0.87[ASN][1000 genomes]
rs10919216	0.87[ASN][1000 genomes]
rs10919219	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11487513	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12067152	0.90[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12076747	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12081319	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12087424	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12116948	0.87[ASN][1000 genomes]
rs12116974	0.88[ASN][1000 genomes]
rs12123695	0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12126695	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12131631	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12137905	1.00[YRI][hapmap]
rs12140128	0.88[ASN][1000 genomes]
rs1569457	1.00[YRI][hapmap]
rs1569474	0.88[ASN][1000 genomes]
rs1569476	0.92[ASN][1000 genomes]
rs1800015	1.00[YRI][hapmap]
rs1800016	1.00[YRI][hapmap]
rs1800805	1.00[CHB][hapmap];0.94[ASN][1000 genomes]
rs1800808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805193	1.00[YRI][hapmap]
rs2235302	0.87[ASN][1000 genomes]
rs2235304	1.00[AFR][1000 genomes]
rs2236868	0.92[CHB][hapmap];0.86[JPT][hapmap];0.92[ASN][1000 genomes]
rs28409897	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3917392	1.00[YRI][hapmap]
rs3917400	1.00[YRI][hapmap]
rs3917410	1.00[YRI][hapmap]
rs3917411	1.00[YRI][hapmap]
rs3917417	1.00[YRI][hapmap]
rs3917425	1.00[YRI][hapmap]
rs3917427	1.00[YRI][hapmap]
rs3917441	1.00[YRI][hapmap]
rs3917452	1.00[YRI][hapmap]
rs3917453	1.00[YRI][hapmap]
rs3917655	0.97[ASN][1000 genomes]
rs3917675	0.84[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3917681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917682	1.00[CHB][hapmap];0.86[JPT][hapmap];0.99[ASN][1000 genomes]
rs3917702	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3917706	1.00[AFR][1000 genomes]
rs3917709	0.92[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs3917729	0.89[CEU][hapmap];0.83[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4987299	1.00[YRI][hapmap]
rs4987302	1.00[YRI][hapmap]
rs4987304	1.00[YRI][hapmap]
rs4987307	1.00[YRI][hapmap]
rs4987308	1.00[YRI][hapmap]
rs4987317	1.00[YRI][hapmap]
rs4987323	1.00[YRI][hapmap]
rs4987324	1.00[YRI][hapmap]
rs4987325	1.00[YRI][hapmap]
rs4987340	1.00[YRI][hapmap]
rs4987345	1.00[YRI][hapmap]
rs4987363	1.00[YRI][hapmap]
rs4987381	1.00[YRI][hapmap]
rs4987395	1.00[YRI][hapmap]
rs5357	1.00[YRI][hapmap]
rs5361	1.00[YRI][hapmap]
rs5362	1.00[YRI][hapmap]
rs5363	1.00[YRI][hapmap]
rs5367	1.00[YRI][hapmap]
rs58647626	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60035985	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6131	0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs66920835	0.92[ASN][1000 genomes]
rs909628	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription 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 target site	56 gene(s)	inside rSNPs	diseases
2	nsv532586	chr1:169593222-169713184	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3917657	C1orf156	cis	uninvolved skin	skin_eQTL
rs3917657	METTL18	cis	Muscle Skeletal	GTEx
rs3917657	METTL18	cis	Esophagus Muscularis	GTEx
rs3917657	METTL18	cis	Artery Tibial	GTEx
rs3917657	METTL18	cis	Adipose Subcutaneous	GTEx
rs3917657	METTL18	cis	Nerve Tibial	GTEx
rs3917657	METTL18	cis	Artery Aorta	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169591600-169599600	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr1:169592200-169599400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:169592200-169599600	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr1:169592200-169599800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr1:169594400-169599400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr1:169594600-169599000	Weak transcription	HUVEC	blood vessel
7	chr1:169596800-169599600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr1:169597200-169599600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:169597400-169598800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr1:169598000-169600600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:169598200-169599800	Enhancers	Primary T cells from cord blood	blood
12	chr1:169598400-169599200	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr1:169598400-169599200	Weak transcription	Fetal Thymus	thymus
14	chr1:169598400-169602200	Weak transcription	Dnd41	blood
15	chr1:169598600-169598800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:169598600-169599000	Weak transcription	Primary hematopoietic stem cells	blood

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