Variant report

Variant	rs5357
Chromosome Location	chr1:169692713-169692714
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	chr1:169691852..169693353-chr1:169762366..169764451,2	MCF-7	breast:
2	chr1:169691841..169694549-chr1:169702477..169705562,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000007908	Chromatin interaction
ENSG00000000460	Chromatin interaction
ENSG00000171806	Chromatin interaction

Extended variants
information (count: 163 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1046058	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10489173	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10489174	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10489176	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12116650	0.87[ASN][1000 genomes]
rs12118431	0.87[ASN][1000 genomes]
rs12118559	0.87[ASN][1000 genomes]
rs12119368	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12119635	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12120114	0.87[ASN][1000 genomes]
rs12120647	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121045	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12121113	0.87[ASN][1000 genomes]
rs12121313	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121443	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12121606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121614	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12121681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12122419	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12122582	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122767	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12122776	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12123432	0.82[CEU][hapmap];1.00[CHB][hapmap]
rs12123942	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12124032	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12124561	0.83[CEU][hapmap]
rs12124750	0.80[CEU][hapmap]
rs12125023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12125595	0.83[CEU][hapmap]
rs12125679	0.83[CEU][hapmap]
rs12126591	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12127211	0.83[CEU][hapmap]
rs12127500	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12128308	0.83[CEU][hapmap]
rs12128695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128704	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12128929	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12129443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12130372	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12130784	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12131192	0.83[CEU][hapmap]
rs12131357	0.80[CEU][hapmap];1.00[CHB][hapmap]
rs12132222	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12132384	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12132633	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12132692	1.00[ASN][1000 genomes]
rs12133074	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12133642	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133666	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12133892	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12134837	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12134886	0.83[CEU][hapmap]
rs12135214	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12135361	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12135642	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12135726	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12135973	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12136425	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12137905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12138861	0.87[ASN][1000 genomes]
rs12140656	0.87[ASN][1000 genomes]
rs12141317	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12141572	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12142093	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12142511	0.87[ASN][1000 genomes]
rs12142956	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12142988	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12143057	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12143161	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12143301	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12144204	0.87[ASN][1000 genomes]
rs12144207	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12144683	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs12145417	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12145458	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12145504	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12145574	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1569457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16828222	0.83[CEU][hapmap]
rs16862751	0.83[CEU][hapmap]
rs17527744	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17529304	0.83[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs17529791	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17543370	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17543611	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17543730	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17544586	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17544823	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17593568	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17593862	1.00[ASN][1000 genomes]
rs17601631	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17602051	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17602072	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17602701	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17603570	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17603666	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs1800015	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800016	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1805193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2272919	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2272920	0.83[CEU][hapmap];1.00[JPT][hapmap]
rs2750018	0.83[CEU][hapmap]
rs2750019	0.83[CEU][hapmap]
rs2806387	0.83[CEU][hapmap]
rs2806389	0.83[CEU][hapmap]
rs3766135	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs3766141	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3766143	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3917388	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917392	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917400	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3917410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3917411	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917424	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917425	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917427	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917441	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917448	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3917452	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3917453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs3917709	1.00[YRI][hapmap]
rs3917729	1.00[YRI][hapmap]
rs41304562	0.87[ASN][1000 genomes]
rs4519	0.83[CEU][hapmap]
rs490469	0.83[CEU][hapmap]
rs4987267	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987271	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987284	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987299	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987302	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987304	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987307	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987317	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987323	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987324	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987325	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4987326	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4987327	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4987340	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987343	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987345	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987363	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4987375	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4987381	1.00[YRI][hapmap]
rs4987395	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5361	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs5362	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5363	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56230202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57357201	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs575147	0.83[CEU][hapmap]
rs590181	0.83[CEU][hapmap]
rs656334	0.83[CEU][hapmap]
rs909628	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9645329	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

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	nsv872541	chr1:169672360-169695815	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs5357	METTL18	cis	Muscle Skeletal	GTEx
rs5357	C1orf156	cis	uninvolved skin	skin_eQTL
rs5357	METTL18	cis	Artery Aorta	GTEx
rs5357	METTL18	cis	Adipose Subcutaneous	GTEx
rs5357	METTL18	cis	Esophagus Muscularis	GTEx
rs5357	C1orf156	Cis_1M	lymphoblastoid	RTeQTL
rs5357	METTL18	cis	Heart Left Ventricle	GTEx
rs5357	METTL18	cis	Nerve Tibial	GTEx
rs5357	METTL18	cis	lung	GTEx
rs5357	METTL18	cis	Esophagus Mucosa	GTEx
rs5357	METTL18	cis	Stomach	GTEx
rs5357	C1orf156	cis	lesional skin	skin_eQTL
rs5357	METTL18	cis	Artery Tibial	GTEx
rs5357	METTL18	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169691200-169692800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:169691200-169692800	Enhancers	Liver	Liver
3	chr1:169691600-169698400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:169691800-169694000	Enhancers	Dnd41	blood
5	chr1:169691800-169698200	Weak transcription	Left Ventricle	heart
6	chr1:169692200-169693200	Weak transcription	HepG2	liver

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