Variant report

Variant	rs10489182
Chromosome Location	chr1:169710669-169710670
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:169708800..169711627-chr1:169714928..169717201,2	MCF-7	breast:
2	chr1:169709712..169712944-chr1:169715789..169719606,5	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10489181	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1051091	0.93[CEU][hapmap]
rs1076637	0.91[CHB][hapmap];0.85[JPT][hapmap]
rs10800469	0.80[JPT][hapmap]
rs10919228	0.80[AFR][1000 genomes]
rs10919232	0.91[ASN][1000 genomes]
rs10919233	0.91[ASN][1000 genomes]
rs12023614	0.93[ASN][1000 genomes]
rs12027035	0.91[CHB][hapmap]
rs12044082	0.87[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs16862663	0.87[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1883228	0.93[CEU][hapmap]
rs2205847	0.93[CEU][hapmap]
rs2272818	0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2420505	1.00[CEU][hapmap];1.00[CHB][hapmap];0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28469136	0.82[AFR][1000 genomes]
rs34990593	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3766129	0.93[CEU][hapmap]
rs3917406	0.93[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3917423	0.91[CHB][hapmap];0.81[JPT][hapmap]
rs3917436	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4265482	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4656192	0.95[ASN][1000 genomes]
rs4656198	0.80[CEU][hapmap]
rs4656697	0.87[CEU][hapmap];0.83[JPT][hapmap]
rs4786	0.87[CEU][hapmap];0.81[JPT][hapmap]
rs4987285	0.87[CEU][hapmap]
rs4987318	0.87[CEU][hapmap]
rs5353	0.86[CEU][hapmap];0.86[JPT][hapmap]
rs7520701	0.93[ASN][1000 genomes]
rs7523319	0.93[ASN][1000 genomes]
rs7543268	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs932307	0.93[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs10489182	METTL18	cis	Thyroid	GTEx
rs10489182	METTL18	cis	lung	GTEx
rs10489182	METTL18	cis	Esophagus Mucosa	GTEx
rs10489182	METTL18	cis	Artery Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169708800-169713800	Weak transcription	Left Ventricle	heart
2	chr1:169709400-169711600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:169710200-169710800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:169710200-169710800	Enhancers	NH-A	brain
5	chr1:169710200-169711200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:169710400-169710800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr1:169710400-169711000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr1:169710400-169711000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:169710400-169711200	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr1:169710400-169711400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:169710400-169711600	Enhancers	Fetal Kidney	kidney
12	chr1:169710400-169713800	Weak transcription	HUVEC	blood vessel
13	chr1:169710600-169710800	Enhancers	Aorta	Aorta
14	chr1:169710600-169710800	Bivalent Enhancer	NHDF-Ad	bronchial
15	chr1:169710600-169710800	Bivalent Enhancer	Osteobl	bone
16	chr1:169710600-169711000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:169710600-169711000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr1:169710600-169711000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
19	chr1:169710600-169711000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
20	chr1:169710600-169711200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
21	chr1:169710600-169711200	Enhancers	HSMM	muscle
22	chr1:169710600-169711400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:169710600-169711400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:169710600-169711400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:169710600-169711600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr1:169710600-169711600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:169710600-169713800	Weak transcription	Liver	Liver

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