Variant report

Variant	rs12131631
Chromosome Location	chr1:169614476-169614477
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:169614149..169618118-chr1:169618692..169623523,5	K562	blood:
2	chr1:169609016..169611168-chr1:169613223..169616502,3	K562	blood:
3	chr1:169614149..169617850-chr1:169618797..169622086,4	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 16 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1011266	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10489183	0.87[AMR][1000 genomes]
rs10919204	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919207	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10919208	0.94[ASN][1000 genomes]
rs10919214	0.93[ASN][1000 genomes]
rs10919216	0.94[ASN][1000 genomes]
rs10919219	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11487513	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067152	0.83[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12076747	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081319	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12087424	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12116948	0.94[ASN][1000 genomes]
rs12116974	0.95[ASN][1000 genomes]
rs12123695	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126695	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12137905	1.00[YRI][hapmap]
rs12140128	0.95[ASN][1000 genomes]
rs1569457	1.00[YRI][hapmap]
rs1569474	0.95[ASN][1000 genomes]
rs1569476	0.99[ASN][1000 genomes]
rs1800015	1.00[YRI][hapmap]
rs1800016	1.00[YRI][hapmap]
rs1800805	1.00[CHB][hapmap];0.87[JPT][hapmap];0.97[ASN][1000 genomes]
rs1800808	0.92[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1805193	1.00[YRI][hapmap]
rs2235302	0.80[ASN][1000 genomes]
rs2235304	1.00[AFR][1000 genomes]
rs2236868	0.92[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs28409897	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	0.94[ASN][1000 genomes]
rs3917657	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3917675	0.86[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3917681	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3917682	1.00[CHB][hapmap];0.81[JPT][hapmap];0.92[ASN][1000 genomes]
rs3917702	1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3917706	1.00[AFR][1000 genomes]
rs3917709	1.00[ASW][hapmap];0.93[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3917729	0.92[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.87[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[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];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60035985	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6131	0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs66920835	0.99[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:16)

SNP	Gene	Cis/trans	Tissue	Source
rs12131631	METTL18	cis	Esophagus Muscularis	GTEx
rs12131631	SELL	cis	cerebellum	SCAN
rs12131631	METTL18	cis	Artery Tibial	GTEx
rs12131631	C1orf156	cis	parietal	SCAN
rs12131631	METTL18	cis	Artery Aorta	GTEx
rs12131631	C1orf156	cis	uninvolved skin	skin_eQTL
rs12131631	METTL18	cis	Nerve Tibial	GTEx
rs12131631	C1orf156	cis	lymphoblastoid	seeQTL
rs12131631	POGK	cis	cerebellum	SCAN
rs12131631	SFT2D2	cis	cerebellum	SCAN
rs12131631	C1orf156	cis	cerebellum	SCAN
rs12131631	ILDR2	cis	cerebellum	SCAN
rs12131631	KIFAP3	cis	parietal	SCAN
rs12131631	METTL18	cis	Muscle Skeletal	GTEx
rs12131631	METTL18	cis	Adipose Subcutaneous	GTEx
rs12131631	GOLT1A	trans	cerebellum	SCAN

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169605200-169617000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:169609000-169616400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr1:169609000-169616800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr1:169611600-169616600	Weak transcription	Primary T cells from cord blood	blood
5	chr1:169611600-169616800	Weak transcription	Dnd41	blood
6	chr1:169611800-169618000	Weak transcription	Primary B cells from peripheral blood	blood

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