Variant report

Variant	rs11117129
Chromosome Location	chr12:86349390-86349391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr12:86348734-86349478	SK-N-SH	brain:	n/a	chr12:86349077-86349084 chr12:86349075-86349094
2	SMC3	chr12:86348905-86349401	Hela-S3	cervix:	n/a	chr12:86349076-86349090
3	CTCF	chr12:86348719-86349497	A549	lung:	n/a	chr12:86349074-86349092 chr12:86349075-86349091 chr12:86349076-86349097 chr12:86349079-86349087 chr12:86349077-86349090
4	FOXA2	chr12:86349288-86349626	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:86348557..86349487-chr12:88241812..88242801,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258178	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10082857	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10779220	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863094	0.83[ASN][1000 genomes]
rs10863111	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863112	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863113	1.00[ASN][1000 genomes]
rs10863114	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10863121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10863123	0.81[EUR][1000 genomes]
rs10863124	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117089	0.83[ASN][1000 genomes]
rs11117115	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117118	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117122	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11117124	1.00[ASN][1000 genomes]
rs11117167	0.82[EUR][1000 genomes]
rs11608539	0.92[ASN][1000 genomes]
rs11611607	1.00[ASN][1000 genomes]
rs11615948	1.00[ASN][1000 genomes]
rs12369468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12370270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17354637	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2897186	0.83[ASN][1000 genomes]
rs4143239	0.83[ASN][1000 genomes]
rs4919774	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929393	1.00[ASN][1000 genomes]
rs61929394	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929395	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61929399	0.83[ASN][1000 genomes]
rs61929421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61929424	0.83[ASN][1000 genomes]
rs61930913	0.83[ASN][1000 genomes]
rs7132262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7135154	0.83[ASN][1000 genomes]
rs7303256	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313442	0.82[EUR][1000 genomes]
rs7314272	0.81[EUR][1000 genomes]
rs73176252	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177142	0.83[ASN][1000 genomes]
rs73177167	0.92[ASN][1000 genomes]
rs73177169	0.92[ASN][1000 genomes]
rs73177179	1.00[ASN][1000 genomes]
rs7487591	0.82[EUR][1000 genomes]
rs7955173	0.80[EUR][1000 genomes]
rs7966131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966352	0.81[EUR][1000 genomes]
rs7972773	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7973694	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976573	1.00[ASN][1000 genomes]
rs9651977	1.00[ASN][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	nsv1049179	chr12:86056376-86799188	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1797806	chr12:86198935-86425608	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv559667	chr12:86318004-86416212	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11117129	MGAT4C	cis	Thyroid	GTEx

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:86348200-86350000	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr12:86348400-86349400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr12:86348600-86349600	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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