Variant report

Variant	rs11580309
Chromosome Location	chr1:211040166-211040167
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	MAFF	chr1:211039957-211040237	HepG2	liver:	n/a	chr1:211040066-211040084
2	FOS	chr1:211040000-211040183	MCF10A-Er-Src	breast:	n/a	n/a
3	MAFK	chr1:211039904-211040237	K562	blood:	n/a	chr1:211040067-211040082
4	MAFK	chr1:211039895-211040247	IMR90	lung:	n/a	chr1:211040067-211040082
5	MAFF	chr1:211039892-211040247	K562	blood:	n/a	chr1:211040066-211040084
6	MAFK	chr1:211039897-211040231	H1-hESC	embryonic stem cell:	n/a	chr1:211040067-211040082
7	MAFK	chr1:211039937-211040224	HepG2	liver:	n/a	chr1:211040067-211040082
8	POLR2A	chr1:211040151-211040206	MCF10A-Er-Src	breast:	n/a	n/a
9	MAFK	chr1:211039906-211040249	HepG2	liver:	n/a	chr1:211040067-211040082

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211034614..211036383-chr1:211038052..211040181,2	K562	blood:

Variant related genes	Relation type
IPO8P1	TF binding region
ENSG00000224668	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10863864	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10863865	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10863867	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11119614	0.92[ASN][1000 genomes]
rs11119620	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11119625	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11119626	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11485201	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12058816	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12059106	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12059948	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12065074	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12069980	0.93[ASN][1000 genomes]
rs12078503	0.92[ASN][1000 genomes]
rs12092880	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12094756	0.84[ASN][1000 genomes]
rs1343150	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17016986	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2358094	0.90[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28402221	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55646513	0.83[ASN][1000 genomes]
rs56336842	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58579065	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs59197723	0.94[ASN][1000 genomes]
rs6666924	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6668151	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67483865	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7545932	0.92[ASN][1000 genomes]
rs9730476	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[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	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv520509	chr1:211021787-211041590	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv4398	chr1:211034582-211079117	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211024800-211046800	Weak transcription	HSMMtube	muscle
2	chr1:211036000-211054800	Weak transcription	HSMM	muscle
3	chr1:211039800-211040200	Active TSS	Liver	Liver

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