Variant report

Variant	rs3132387
Chromosome Location	chr6:28825573-28825574
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr6:28825479-28825872	K562	blood:	n/a	n/a
2	MAX	chr6:28825348-28825763	K562	blood:	n/a	n/a
3	MYC	chr6:28825482-28825720	K562	blood:	n/a	n/a
4	E2F6	chr6:28825502-28825643	K562	blood:	n/a	n/a
5	MAX	chr6:28825520-28825713	K562	blood:	n/a	n/a
6	GTF3C2	chr6:28825350-28825598	K562	blood:	n/a	n/a
7	EGR1	chr6:28825467-28825701	K562	blood:	n/a	n/a
8	RCOR1	chr6:28825563-28825720	K562	blood:	n/a	n/a
9	USF1	chr6:28825457-28825811	K562	blood:	n/a	n/a
10	ZNF384	chr6:28825145-28825824	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28824462..28827461-chr6:28944855..28946854,2	K562	blood:
2	chr6:28825252..28827430-chr6:28833633..28835942,2	MCF-7	breast:
3	chr6:28825473..28828698-chr6:28972881..28975179,3	K562	blood:
4	chr6:28823126..28835109-chr6:28859268..28867076,23	K562	blood:

No data

Variant related genes	Relation type
RPL13P	TF binding region
ENSG00000224157	Chromatin interaction
ENSG00000197935	Chromatin interaction
ENSG00000263426	Chromatin interaction

Extended variants
information (count: 122 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:118)

rs_ID	r²[population]
rs1233599	0.82[EUR][1000 genomes]
rs1233600	0.82[EUR][1000 genomes]
rs1233604	0.82[EUR][1000 genomes]
rs1233618	0.82[EUR][1000 genomes]
rs1233620	0.82[EUR][1000 genomes]
rs1233623	0.82[EUR][1000 genomes]
rs13206458	0.94[EUR][1000 genomes]
rs13437309	0.86[AFR][1000 genomes]
rs3117146	0.94[EUR][1000 genomes]
rs3118357	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3118359	0.98[EUR][1000 genomes]
rs3118360	0.91[EUR][1000 genomes]
rs3118361	0.94[EUR][1000 genomes]
rs3118364	0.96[EUR][1000 genomes]
rs3118365	0.93[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs3118366	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3118367	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3129791	0.87[EUR][1000 genomes]
rs3129794	0.94[EUR][1000 genomes]
rs3129797	0.94[EUR][1000 genomes]
rs3129798	0.94[EUR][1000 genomes]
rs3130837	0.98[EUR][1000 genomes]
rs3130838	0.98[EUR][1000 genomes]
rs3130844	0.94[EUR][1000 genomes]
rs3130845	0.94[EUR][1000 genomes]
rs3130846	0.91[EUR][1000 genomes]
rs3130847	0.94[EUR][1000 genomes]
rs3130885	0.92[EUR][1000 genomes]
rs3130887	0.96[EUR][1000 genomes]
rs3130888	0.94[EUR][1000 genomes]
rs3130890	0.84[EUR][1000 genomes]
rs3130891	0.94[EUR][1000 genomes]
rs3130892	0.94[EUR][1000 genomes]
rs3130893	0.94[EUR][1000 genomes]
rs3130894	0.94[EUR][1000 genomes]
rs3130895	0.93[EUR][1000 genomes]
rs3130896	0.94[EUR][1000 genomes]
rs3131068	0.94[EUR][1000 genomes]
rs3131069	0.94[EUR][1000 genomes]
rs3131071	0.94[EUR][1000 genomes]
rs3131072	0.94[EUR][1000 genomes]
rs3131073	0.91[EUR][1000 genomes]
rs3131075	0.94[EUR][1000 genomes]
rs3131076	0.94[EUR][1000 genomes]
rs3131081	0.94[EUR][1000 genomes]
rs3131093	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3131094	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3131095	0.98[EUR][1000 genomes]
rs3131096	0.98[EUR][1000 genomes]
rs3131097	0.98[EUR][1000 genomes]
rs3131101	0.91[EUR][1000 genomes]
rs3131335	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3131336	0.98[EUR][1000 genomes]
rs3131340	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3131341	0.87[EUR][1000 genomes]
rs3131343	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3131345	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132373	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3132374	0.94[EUR][1000 genomes]
rs3132376	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132378	0.91[EUR][1000 genomes]
rs3132382	0.94[EUR][1000 genomes]
rs3132384	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132385	0.98[EUR][1000 genomes]
rs3132388	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132389	0.98[EUR][1000 genomes]
rs3132391	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132392	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132393	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3132394	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3132395	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3132396	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3135293	0.98[EUR][1000 genomes]
rs3135294	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3135295	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135297	0.91[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs3135298	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3135299	0.94[EUR][1000 genomes]
rs3135300	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135302	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135304	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135306	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135307	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135308	0.98[EUR][1000 genomes]
rs3135309	0.98[EUR][1000 genomes]
rs3135310	0.98[EUR][1000 genomes]
rs3135311	0.98[EUR][1000 genomes]
rs3135312	0.98[EUR][1000 genomes]
rs3135313	0.98[EUR][1000 genomes]
rs3135316	0.98[EUR][1000 genomes]
rs3135317	0.94[EUR][1000 genomes]
rs3135318	0.94[EUR][1000 genomes]
rs3135325	0.94[EUR][1000 genomes]
rs4324798	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6928657	0.81[AFR][1000 genomes]
rs7760313	0.91[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs7761321	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7764642	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7766699	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7767099	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9257167	0.82[EUR][1000 genomes]
rs9257183	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9257184	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9257187	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9257188	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9257189	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9257192	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9257217	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9257223	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs9257227	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9257245	0.93[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs9257249	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9257250	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9257262	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9257267	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9257272	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9257331	0.98[EUR][1000 genomes]
rs9257345	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534089	chr6:28636972-28841640	Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
4	esv3403240	chr6:28808022-28832799	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3132387	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs3132387	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs3132387	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28825400-28830200	Weak transcription	K562	blood

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