Variant report

Variant	rs4711217
Chromosome Location	chr6:30379835-30379836
allele	A/C
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	chr6:30379750-30379930	GM12878	blood:	n/a	n/a
2	USF1	chr6:30379663-30379840	HepG2	liver:	n/a	chr6:30379783-30379794
3	USF1	chr6:30379702-30379879	GM12878	blood:	n/a	chr6:30379783-30379794
4	USF1	chr6:30379511-30379935	K562	blood:	n/a	chr6:30379783-30379794
5	POU2F2	chr6:30379660-30379942	GM12878	blood:	n/a	n/a
6	USF1	chr6:30379619-30379841	K562	blood:	n/a	chr6:30379783-30379794
7	USF1	chr6:30379572-30379913	SK-N-SH_RA	brain:	n/a	chr6:30379783-30379794
8	USF2	chr6:30379746-30379902	HepG2	liver:	n/a	n/a
9	USF1	chr6:30379441-30379980	H1-hESC	embryonic stem cell:	n/a	chr6:30379783-30379794
10	BHLHE40	chr6:30379306-30379933	K562	blood:	n/a	n/a
11	USF1	chr6:30379636-30379925	HepG2	liver:	n/a	chr6:30379783-30379794
12	USF1	chr6:30379504-30379886	H1-hESC	embryonic stem cell:	n/a	chr6:30379783-30379794
13	BHLHE40	chr6:30379732-30379883	HepG2	liver:	n/a	n/a
14	USF2	chr6:30379711-30379910	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAX	chr6:30379642-30379899	K562	blood:	n/a	n/a

Variant related genes	Relation type
MICC	TF binding region

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1076832	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12192526	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12205877	0.87[EUR][1000 genomes]
rs12205979	0.87[EUR][1000 genomes]
rs12210448	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12214298	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12214645	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17188729	0.81[EUR][1000 genomes]
rs17188743	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17195068	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17195089	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17410877	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2074502	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2157605	0.80[AMR][1000 genomes]
rs34039931	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34111681	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34124993	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34337286	0.84[EUR][1000 genomes]
rs34521355	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35118048	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35764894	0.89[EUR][1000 genomes]
rs4713325	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713326	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4713328	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6930977	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6941668	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7751647	0.87[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	nsv1025667	chr6:30292845-30638066	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	825 gene(s)	inside rSNPs	diseases
2	nsv884063	chr6:30366100-30397219	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv462742	chr6:30372570-30410206	Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv601477	chr6:30372570-30410206	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv884064	chr6:30375290-30396173	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30379400-30380000	Enhancers	Pancreas	Pancrea
2	chr6:30379600-30380000	Active TSS	Spleen	Spleen

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