Variant report

Variant	rs12126695
Chromosome Location	chr1:169617890-169617891
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169614149..169618118-chr1:169618692..169623523,5	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs1011266	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10489183	0.87[AMR][1000 genomes]
rs10919204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10919208	0.91[ASN][1000 genomes]
rs10919214	0.91[ASN][1000 genomes]
rs10919216	0.91[ASN][1000 genomes]
rs10919219	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11487513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12067152	0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs12076747	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12081319	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12087424	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12116948	0.91[ASN][1000 genomes]
rs12116974	0.92[ASN][1000 genomes]
rs12123695	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12131631	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12140128	0.92[ASN][1000 genomes]
rs1569474	0.92[ASN][1000 genomes]
rs1569476	0.97[ASN][1000 genomes]
rs1800015	1.00[YRI][hapmap]
rs1800016	1.00[YRI][hapmap]
rs1800805	0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs1800808	0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1805193	1.00[YRI][hapmap]
rs2235304	1.00[AFR][1000 genomes]
rs2236868	0.86[CHB][hapmap];0.93[JPT][hapmap];0.84[ASN][1000 genomes]
rs28409897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3917392	1.00[YRI][hapmap]
rs3917410	1.00[YRI][hapmap]
rs3917411	1.00[YRI][hapmap]
rs3917425	1.00[YRI][hapmap]
rs3917427	1.00[YRI][hapmap]
rs3917452	1.00[YRI][hapmap]
rs3917453	1.00[YRI][hapmap]
rs3917655	0.92[ASN][1000 genomes]
rs3917657	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3917675	0.86[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3917681	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3917682	0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs3917702	1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3917706	1.00[AFR][1000 genomes]
rs3917709	0.86[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3917729	0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4987299	1.00[YRI][hapmap]
rs4987323	1.00[YRI][hapmap]
rs4987324	1.00[YRI][hapmap]
rs4987363	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];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60035985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6131	0.93[JPT][hapmap];0.80[ASN][1000 genomes]
rs66920835	0.97[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
rs12126695	METTL18	cis	Nerve Tibial	GTEx
rs12126695	METTL18	cis	Adipose Subcutaneous	GTEx
rs12126695	METTL18	cis	Esophagus Muscularis	GTEx
rs12126695	METTL18	cis	Artery Aorta	GTEx
rs12126695	METTL18	cis	Artery Tibial	GTEx
rs12126695	METTL18	cis	Muscle Skeletal	GTEx
rs12126695	C1orf156	cis	uninvolved skin	skin_eQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169611800-169618000	Weak transcription	Primary B cells from peripheral blood	blood
2	chr1:169616600-169619600	Enhancers	Primary T cells from cord blood	blood
3	chr1:169616800-169619600	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:169616800-169619800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:169616800-169619800	Enhancers	Dnd41	blood
6	chr1:169616800-169620000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:169616800-169620000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:169616800-169620000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:169617000-169620600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:169617400-169619400	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr1:169617400-169619800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:169617400-169620000	Enhancers	Thymus	Thymus
13	chr1:169617600-169618000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:169617600-169618200	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr1:169617600-169618600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr1:169617800-169618400	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr1:169617800-169619600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr1:169617800-169620000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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