Variant report

Variant	rs12116974
Chromosome Location	chr1:169637391-169637392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1011266	0.86[ASN][1000 genomes]
rs10919204	0.95[ASN][1000 genomes]
rs10919207	0.95[ASN][1000 genomes]
rs10919208	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10919214	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10919216	0.99[ASN][1000 genomes]
rs10919219	0.95[ASN][1000 genomes]
rs11487513	0.95[ASN][1000 genomes]
rs12067152	0.86[ASN][1000 genomes]
rs12076747	0.95[ASN][1000 genomes]
rs12081319	0.95[ASN][1000 genomes]
rs12087424	0.95[ASN][1000 genomes]
rs12116948	0.99[ASN][1000 genomes]
rs12123695	0.95[ASN][1000 genomes]
rs12126695	0.92[ASN][1000 genomes]
rs12131631	0.95[ASN][1000 genomes]
rs12140128	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12410141	0.81[AFR][1000 genomes]
rs12733041	0.83[AFR][1000 genomes]
rs1569472	0.81[AFR][1000 genomes]
rs1569474	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1569475	0.81[AFR][1000 genomes]
rs1569476	0.93[ASN][1000 genomes]
rs1800805	0.91[ASN][1000 genomes]
rs1800808	0.92[ASN][1000 genomes]
rs2236868	0.81[ASN][1000 genomes]
rs28409897	0.95[ASN][1000 genomes]
rs34126060	0.83[AFR][1000 genomes]
rs34435738	0.84[AFR][1000 genomes]
rs3917655	0.89[ASN][1000 genomes]
rs3917657	0.88[ASN][1000 genomes]
rs3917675	0.86[ASN][1000 genomes]
rs3917681	0.88[ASN][1000 genomes]
rs3917682	0.87[ASN][1000 genomes]
rs3917702	0.86[ASN][1000 genomes]
rs3917709	0.84[ASN][1000 genomes]
rs3917729	0.82[ASN][1000 genomes]
rs56028024	0.85[AFR][1000 genomes]
rs58647626	0.95[ASN][1000 genomes]
rs60035985	0.95[ASN][1000 genomes]
rs66920835	0.93[ASN][1000 genomes]
rs71635629	0.89[AFR][1000 genomes]
rs7535804	0.86[AFR][1000 genomes]

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	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
2	esv3451367	chr1:169630075-169976964	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12116974	METTL18	cis	Esophagus Muscularis	GTEx
rs12116974	METTL18	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169635800-169638600	Enhancers	Primary B cells from peripheral blood	blood
2	chr1:169636000-169637400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr1:169636000-169637600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
4	chr1:169636000-169638600	Enhancers	Primary T cells fromperipheralblood	blood
5	chr1:169636000-169638600	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr1:169636000-169638600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:169636000-169638800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr1:169636200-169637400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:169636200-169637400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:169636200-169637600	Enhancers	Primary hematopoietic stem cells	blood
11	chr1:169636200-169637600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
12	chr1:169636200-169638000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr1:169636200-169638400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:169636200-169638600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:169636200-169638600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr1:169636600-169637400	Enhancers	Fetal Thymus	thymus
17	chr1:169636600-169637400	Flanking Active TSS	Dnd41	blood
18	chr1:169636600-169637400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr1:169636600-169637600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
20	chr1:169636600-169637600	Enhancers	Primary hematopoietic stem cells short term culture	blood
21	chr1:169636800-169637400	Enhancers	Primary T cells from cord blood	blood
22	chr1:169636800-169637600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:169636800-169637600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:169637200-169637400	Enhancers	GM12878-XiMat	blood
25	chr1:169637200-169637600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr1:169637200-169637600	Enhancers	Spleen	Spleen
27	chr1:169637200-169638400	Enhancers	Primary B cells from cord blood	blood
28	chr1:169637200-169640000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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