Variant report

Variant	rs11743135
Chromosome Location	chr5:70745036-70745037
allele	C/T
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	POLR2A	chr5:70745011-70745361	SK-N-MC	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000250387	TF binding region

Extended variants
information (count: 52 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10044572	0.89[EUR][1000 genomes]
rs10077085	0.89[EUR][1000 genomes]
rs10434642	0.93[EUR][1000 genomes]
rs10462368	0.83[EUR][1000 genomes]
rs10474383	0.93[EUR][1000 genomes]
rs10805884	0.87[EUR][1000 genomes]
rs10942284	0.93[EUR][1000 genomes]
rs10942533	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10942682	0.93[EUR][1000 genomes]
rs10942700	0.87[EUR][1000 genomes]
rs10942702	0.89[EUR][1000 genomes]
rs10942705	0.87[EUR][1000 genomes]
rs11746722	0.89[EUR][1000 genomes]
rs12152748	0.88[EUR][1000 genomes]
rs12514732	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13157835	0.89[EUR][1000 genomes]
rs3748043	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4062889	0.89[EUR][1000 genomes]
rs4505929	0.89[EUR][1000 genomes]
rs5005863	0.91[EUR][1000 genomes]
rs6452722	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6452900	0.94[EUR][1000 genomes]
rs6453014	0.92[EUR][1000 genomes]
rs6453018	0.93[EUR][1000 genomes]
rs6453035	0.89[EUR][1000 genomes]
rs6872235	0.89[EUR][1000 genomes]
rs6872671	0.88[EUR][1000 genomes]
rs6877289	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6877773	0.89[EUR][1000 genomes]
rs6886336	0.93[EUR][1000 genomes]
rs6898471	0.91[EUR][1000 genomes]
rs715747	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7378662	0.93[EUR][1000 genomes]
rs7380115	0.89[EUR][1000 genomes]
rs7380280	0.91[EUR][1000 genomes]
rs7444322	0.94[EUR][1000 genomes]
rs7446049	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7447726	0.93[EUR][1000 genomes]
rs7448422	0.93[EUR][1000 genomes]
rs7449295	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7714527	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7715648	0.93[EUR][1000 genomes]
rs7721179	0.93[EUR][1000 genomes]
rs7727576	0.93[EUR][1000 genomes]
rs7728577	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7735544	0.90[EUR][1000 genomes]
rs9968768	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034703	chr5:70391173-70995695	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv1850052	chr5:70674583-70745387	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv528571	chr5:70679626-70767269	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv964892	chr5:70703111-70745996	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv882176	chr5:70738250-70860665	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11743135	MCCC2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:70742800-70746200	Weak transcription	Pancreatic Islets	Pancreatic Islet

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