Variant report

Variant	rs4987381
Chromosome Location	chr1:169661180-169661181
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 55 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs12133642	1.00[AFR][1000 genomes]
rs12133666	1.00[AFR][1000 genomes]
rs12133892	1.00[AFR][1000 genomes]
rs12135214	1.00[AFR][1000 genomes]
rs12135973	1.00[AFR][1000 genomes]
rs12137905	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs12142956	1.00[AFR][1000 genomes]
rs12142988	1.00[AFR][1000 genomes]
rs1569457	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs1800015	1.00[YRI][hapmap]
rs1800016	1.00[YRI][hapmap]
rs1805193	1.00[YRI][hapmap]
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]
rs3917448	1.00[AFR][1000 genomes]
rs3917452	1.00[YRI][hapmap]
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]
rs4987271	1.00[AFR][1000 genomes]
rs4987284	0.94[AFR][1000 genomes]
rs4987299	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987302	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987304	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987307	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987308	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987317	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987323	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987324	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs4987325	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987326	0.94[AFR][1000 genomes]
rs4987327	0.94[AFR][1000 genomes]
rs4987340	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987343	0.94[AFR][1000 genomes]
rs4987345	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4987363	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4987375	1.00[ASN][1000 genomes]
rs4987395	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
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]
rs909628	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4987381	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs4987381	METTL18	cis	Thyroid	GTEx
rs4987381	METTL18	cis	Artery Tibial	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	chr1:169656800-169662600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr1:169657000-169661800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr1:169658400-169666200	Enhancers	Thymus	Thymus
5	chr1:169659000-169661600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr1:169659200-169661200	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr1:169659200-169661400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:169659400-169661200	Genic enhancers	Primary B cells from cord blood	blood
9	chr1:169659400-169661200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr1:169659600-169661800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:169660000-169661200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr1:169660000-169661400	Genic enhancers	Primary hematopoietic stem cells	blood
13	chr1:169660200-169661600	Genic enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:169660400-169661200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:169660400-169661800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
16	chr1:169660400-169662800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
17	chr1:169660600-169661200	Genic enhancers	Fetal Thymus	thymus
18	chr1:169660600-169661200	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr1:169660600-169663600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:169660600-169664000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:169660800-169661200	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
22	chr1:169660800-169661400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:169660800-169661800	Flanking Active TSS	Dnd41	blood
24	chr1:169660800-169662400	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr1:169660800-169663000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:169660800-169664200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr1:169660800-169665200	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr1:169661000-169661200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:169661000-169661200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr1:169661000-169661200	Flanking Active TSS	GM12878-XiMat	blood
31	chr1:169661000-169661600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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