Variant report

Variant	rs4760176
Chromosome Location	chr12:58359547-58359548
allele	G/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	IRF1	chr12:58359463-58360173	K562	blood:	n/a	chr12:58359685-58359694 chr12:58359852-58359873
2	SP1	chr12:58359430-58359823	GM12878	blood:	n/a	n/a
3	NFYB	chr12:58359514-58359694	GM12878	blood:	n/a	chr12:58359682-58359694
4	TCF12	chr12:58359485-58359666	GM12878	blood:	n/a	n/a
5	FOSL2	chr12:58359415-58359857	HepG2	liver:	n/a	chr12:58359600-58359611 chr12:58359603-58359612
6	ELF1	chr12:58359453-58359683	K562	blood:	n/a	chr12:58359550-58359563
7	EBF1	chr12:58359447-58359712	GM12878	blood:	n/a	n/a
8	FOSL2	chr12:58359481-58359798	HepG2	liver:	n/a	chr12:58359600-58359611 chr12:58359603-58359612
9	JUND	chr12:58359460-58359766	HepG2	liver:	n/a	chr12:58359603-58359612 chr12:58359601-58359612
10	SP1	chr12:58359473-58359848	GM12878	blood:	n/a	n/a
11	FOS	chr12:58359472-58359709	MCF10A-Er-Src	breast:	n/a	chr12:58359603-58359612
12	BATF	chr12:58359492-58359759	GM12878	blood:	n/a	chr12:58359599-58359610
13	BCL11A	chr12:58359495-58359743	GM12878	blood:	n/a	chr12:58359602-58359611 chr12:58359583-58359592
14	ELF1	chr12:58359419-58359825	HepG2	liver:	n/a	chr12:58359550-58359563
15	FOXA1	chr12:58359436-58359779	HepG2	liver:	n/a	n/a
16	BCL11A	chr12:58359487-58359709	GM12878	blood:	n/a	chr12:58359602-58359611 chr12:58359583-58359592
17	IRF4	chr12:58359415-58359767	GM12878	blood:	n/a	n/a
18	SPI1	chr12:58359473-58359670	GM12878	blood:	n/a	n/a
19	IRF4	chr12:58359478-58359831	GM12878	blood:	n/a	n/a
20	EBF1	chr12:58359490-58359722	GM12878	blood:	n/a	n/a
21	JUND	chr12:58359425-58359767	HepG2	liver:	n/a	chr12:58359603-58359612 chr12:58359601-58359612
22	ELF1	chr12:58359360-58359920	HepG2	liver:	n/a	chr12:58359550-58359563
23	JUND	chr12:58359526-58359681	HepG2	liver:	n/a	chr12:58359603-58359612 chr12:58359601-58359612
24	TCF12	chr12:58359501-58359718	GM12878	blood:	n/a	n/a
25	SP1	chr12:58359458-58359933	HepG2	liver:	n/a	n/a
26	BATF	chr12:58359495-58359798	GM12878	blood:	n/a	chr12:58359599-58359610
27	MAFK	chr12:58359531-58359897	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58357813..58359948-chr12:58368022..58370038,2	K562	blood:

Variant related genes	Relation type
ENSG00000257159	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1124448	0.94[EUR][1000 genomes]
rs17491039	0.94[EUR][1000 genomes]
rs17491749	0.94[EUR][1000 genomes]
rs17491966	0.94[EUR][1000 genomes]
rs17492213	0.94[EUR][1000 genomes]
rs17569631	0.94[EUR][1000 genomes]
rs17576604	0.94[EUR][1000 genomes]
rs17577748	0.91[EUR][1000 genomes]
rs17578745	0.91[EUR][1000 genomes]
rs1848130	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1857942	0.94[EUR][1000 genomes]
rs2659663	0.94[EUR][1000 genomes]
rs2720174	0.94[EUR][1000 genomes]
rs2720175	0.94[EUR][1000 genomes]
rs2720177	0.94[EUR][1000 genomes]
rs4505105	0.94[EUR][1000 genomes]
rs73339741	0.94[EUR][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	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases
2	nsv523853	chr12:58350631-58386722	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv975500	chr12:58351052-58362673	ZNF genes & repeats Weak transcription Strong transcription Enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4760176	TNRC6A	trans	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58336200-58359600	Weak transcription	A549	lung
2	chr12:58336400-58359600	Weak transcription	HMEC	breast
3	chr12:58357800-58360000	Enhancers	Dnd41	blood
4	chr12:58359400-58360000	Active TSS	Placenta	Placenta
5	chr12:58359400-58360000	Active TSS	K562	blood
6	chr12:58359400-58360200	Active TSS	HepG2	liver

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