Variant report

Variant	rs10489183
Chromosome Location	chr1:169649531-169649532
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs1011266	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10919204	0.87[AMR][1000 genomes]
rs10919207	0.87[AMR][1000 genomes]
rs10919219	0.87[AMR][1000 genomes]
rs11487513	0.87[AMR][1000 genomes]
rs12067152	1.00[YRI][hapmap]
rs12076747	0.87[AMR][1000 genomes]
rs12081319	0.84[AMR][1000 genomes]
rs12087424	0.87[AMR][1000 genomes]
rs12116738	1.00[AFR][1000 genomes]
rs12121681	0.81[CEU][hapmap]
rs12122776	0.81[CEU][hapmap]
rs12122781	0.81[CEU][hapmap]
rs12125023	0.81[CEU][hapmap]
rs12126695	0.87[AMR][1000 genomes]
rs12128695	0.81[CEU][hapmap]
rs12128704	0.81[CEU][hapmap]
rs12129443	0.81[CEU][hapmap]
rs12131631	0.87[AMR][1000 genomes]
rs12132633	0.81[CEU][hapmap]
rs12137905	0.81[CEU][hapmap]
rs1569457	0.81[CEU][hapmap]
rs17593568	0.81[CEU][hapmap]
rs1800015	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs1800016	1.00[YRI][hapmap]
rs1800808	1.00[YRI][hapmap]
rs1805193	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs28409897	0.87[AMR][1000 genomes]
rs3917392	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3917410	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3917411	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3917425	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3917427	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3917452	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs3917453	1.00[YRI][hapmap]
rs3917675	1.00[YRI][hapmap]
rs3917681	1.00[YRI][hapmap]
rs3917709	1.00[YRI][hapmap]
rs3917729	1.00[YRI][hapmap]
rs4987299	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4987302	0.81[CEU][hapmap]
rs4987304	0.81[CEU][hapmap]
rs4987307	0.81[CEU][hapmap]
rs4987308	0.81[CEU][hapmap]
rs4987323	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4987324	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4987325	0.81[CEU][hapmap]
rs4987340	0.81[CEU][hapmap]
rs4987343	0.81[CEU][hapmap]
rs4987345	0.81[CEU][hapmap]
rs4987363	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs4987395	0.81[CEU][hapmap]
rs5357	0.81[CEU][hapmap]
rs5361	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs5362	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs5363	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs5367	0.81[CEU][hapmap];1.00[YRI][hapmap]
rs58647626	0.87[AMR][1000 genomes]
rs60035985	0.87[AMR][1000 genomes]
rs909628	0.81[CEU][hapmap];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	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:11)

SNP	Gene	Cis/trans	Tissue	Source
rs10489183	C1orf156	cis	uninvolved skin	skin_eQTL
rs10489183	METTL18	cis	lung	GTEx
rs10489183	METTL18	cis	Artery Tibial	GTEx
rs10489183	METTL18	cis	Muscle Skeletal	GTEx
rs10489183	METTL18	cis	Heart Left Ventricle	GTEx
rs10489183	METTL18	cis	Esophagus Muscularis	GTEx
rs10489183	C1orf156	cis	lesional skin	skin_eQTL
rs10489183	METTL18	cis	Nerve Tibial	GTEx
rs10489183	METTL18	cis	Thyroid	GTEx
rs10489183	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs10489183	METTL18	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169644600-169651600	Enhancers	Primary B cells from cord blood	blood
2	chr1:169645000-169651600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr1:169645000-169652200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:169645600-169650200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr1:169646200-169650000	Weak transcription	NHDF-Ad	bronchial
6	chr1:169646800-169651800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:169647800-169659600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr1:169647800-169660000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr1:169648000-169653400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr1:169648200-169649800	Enhancers	Dnd41	blood
11	chr1:169648200-169650400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr1:169648200-169651600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr1:169648200-169652200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:169648200-169659000	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:169648400-169650600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:169648400-169650600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:169648400-169650600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:169648400-169652200	Enhancers	Primary T cells from cord blood	blood
19	chr1:169648600-169650800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr1:169649000-169650800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
21	chr1:169649400-169649800	Flanking Active TSS	GM12878-XiMat	blood
22	chr1:169649400-169650600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:169649400-169650600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr1:169649400-169650800	Enhancers	Primary T cells fromperipheralblood	blood

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