Variant report

Variant	rs4987345
Chromosome Location	chr1:169668608-169668609
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 133 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:128)

rs_ID	r²[population]
rs1046058	0.83[CEU][hapmap]
rs10489173	0.83[CEU][hapmap]
rs10489174	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs10489176	0.83[CEU][hapmap]
rs12116738	0.85[EUR][1000 genomes]
rs12119368	0.83[CEU][hapmap]
rs12119635	0.83[CEU][hapmap]
rs12120647	0.82[AMR][1000 genomes]
rs12121045	0.83[CEU][hapmap]
rs12121313	0.82[AMR][1000 genomes]
rs12121443	0.83[CEU][hapmap]
rs12121606	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs12121614	0.83[CEU][hapmap]
rs12121681	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12122419	0.83[CEU][hapmap]
rs12122582	0.82[AMR][1000 genomes]
rs12122776	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12122781	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12123432	0.82[CEU][hapmap]
rs12123942	0.82[AMR][1000 genomes]
rs12124032	0.83[CEU][hapmap]
rs12125023	1.00[CEU][hapmap]
rs12126591	0.83[CEU][hapmap]
rs12127500	0.83[CEU][hapmap]
rs12128695	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12128704	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12128929	0.83[CEU][hapmap]
rs12129443	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs12130784	0.82[AMR][1000 genomes]
rs12131357	0.80[CEU][hapmap]
rs12132222	0.83[CEU][hapmap]
rs12132384	0.83[CEU][hapmap]
rs12132633	1.00[CEU][hapmap]
rs12133074	0.83[CEU][hapmap]
rs12133642	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133666	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12134837	0.83[CEU][hapmap]
rs12135214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12135361	0.83[CEU][hapmap]
rs12135642	0.83[CEU][hapmap]
rs12135726	0.83[CEU][hapmap]
rs12135973	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12136425	0.83[CEU][hapmap]
rs12137905	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12141317	0.83[CEU][hapmap]
rs12141572	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs12142093	0.83[CEU][hapmap]
rs12142956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12142988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143057	0.83[CEU][hapmap]
rs12143301	0.83[CEU][hapmap]
rs12144207	0.83[CEU][hapmap]
rs12144683	0.83[CEU][hapmap]
rs12145417	0.83[CEU][hapmap]
rs12145458	0.83[CEU][hapmap]
rs12145504	0.82[AMR][1000 genomes]
rs12145574	0.83[CEU][hapmap]
rs1569457	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17527744	0.82[AMR][1000 genomes]
rs17529304	0.83[CEU][hapmap]
rs17529791	0.83[CEU][hapmap]
rs17543370	0.83[CEU][hapmap]
rs17543611	0.83[CEU][hapmap]
rs17543730	0.83[CEU][hapmap]
rs17544586	0.83[CEU][hapmap]
rs17544823	0.83[CEU][hapmap]
rs17593568	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs17601631	0.83[CEU][hapmap]
rs17602051	0.83[CEU][hapmap]
rs17602072	0.83[CEU][hapmap]
rs17602701	0.83[CEU][hapmap]
rs17603570	0.83[CEU][hapmap]
rs17603666	0.83[CEU][hapmap]
rs1800015	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1800016	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805193	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs2272919	0.83[CEU][hapmap]
rs2272920	0.83[CEU][hapmap]
rs3766135	0.83[CEU][hapmap]
rs3766141	0.83[CEU][hapmap]
rs3766143	0.83[CEU][hapmap]
rs3917388	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3917392	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3917396	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917400	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3917410	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs3917411	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917417	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917424	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917425	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917427	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917441	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3917448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3917452	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3917453	1.00[YRI][hapmap]
rs3917709	1.00[YRI][hapmap]
rs3917724	1.00[JPT][hapmap]
rs3917729	1.00[YRI][hapmap]
rs4987267	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987284	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987299	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987302	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987304	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987307	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987308	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987317	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987323	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987324	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987325	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987326	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4987327	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4987340	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987343	1.00[CEU][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987363	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987375	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4987381	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987395	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5357	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5361	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs5362	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5363	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5367	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56230202	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs57357201	0.86[AMR][1000 genomes]
rs909628	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9645329	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv872539	chr1:169658586-169674590	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1009313	chr1:169661299-169680173	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv872540	chr1:169667355-169671088	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4987345	METTL18	cis	Esophagus Muscularis	GTEx
rs4987345	METTL18	cis	Stomach	GTEx
rs4987345	C1orf156	cis	lesional skin	skin_eQTL
rs4987345	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs4987345	METTL18	cis	Nerve Tibial	GTEx
rs4987345	C1orf156	cis	uninvolved skin	skin_eQTL
rs4987345	METTL18	cis	Heart Left Ventricle	GTEx
rs4987345	METTL18	cis	Artery Tibial	GTEx
rs4987345	METTL18	cis	Esophagus Mucosa	GTEx
rs4987345	METTL18	cis	Adipose Subcutaneous	GTEx
rs4987345	METTL18	cis	Muscle Skeletal	GTEx
rs4987345	METTL18	cis	Thyroid	GTEx
rs4987345	METTL18	cis	Artery Aorta	GTEx
rs4987345	METTL18	cis	lung	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169653200-169671600	Weak transcription	Spleen	Spleen
2	chr1:169662400-169676000	Genic enhancers	Primary B cells from peripheral blood	blood
3	chr1:169663200-169669000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:169663200-169674000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:169664000-169673400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:169664000-169674000	Genic enhancers	Fetal Thymus	thymus
7	chr1:169664000-169674200	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr1:169664200-169670400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr1:169664400-169670800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:169664800-169669600	Genic enhancers	Dnd41	blood
11	chr1:169665400-169669600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:169665800-169670000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr1:169666000-169669600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr1:169666200-169669600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:169666200-169669600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr1:169666200-169669600	Weak transcription	Thymus	Thymus
17	chr1:169666200-169671600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:169666200-169673800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr1:169666600-169669600	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:169667400-169668800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr1:169667600-169670000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:169667600-169673600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr1:169667600-169676800	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr1:169668000-169677400	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
25	chr1:169668200-169669600	Genic enhancers	Primary B cells from cord blood	blood
26	chr1:169668400-169669600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr1:169668600-169668800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:169668600-169668800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
29	chr1:169668600-169668800	Enhancers	GM12878-XiMat	blood
30	chr1:169668600-169669600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr1:169668600-169670000	Genic enhancers	Monocytes-CD14+_RO01746	blood

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