Variant report

Variant	rs1233593
Chromosome Location	chr6:28726815-28726816
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28695559..28699343-chr6:28721391..28727067,6	K562	blood:
2	chr6:28725563..28727836-chr6:28829378..28832246,2	K562	blood:
3	chr6:28723896..28728359-chr6:28734827..28738855,4	K562	blood:
4	chr6:28708828..28711796-chr6:28725533..28729587,4	K562	blood:
5	chr6:28692707..28694832-chr6:28724756..28727492,3	K562	blood:
6	chr6:28704393..28708100-chr6:28724005..28727294,4	K562	blood:
7	chr6:28723977..28727923-chr6:28779903..28783132,3	K562	blood:
8	chr6:28654726..28657643-chr6:28726674..28728730,2	K562	blood:
9	chr6:28688164..28689744-chr6:28726401..28728148,2	K562	blood:
10	chr6:28725484..28727930-chr6:28757614..28759136,2	K562	blood:
11	chr6:28700497..28703412-chr6:28724677..28728589,3	K562	blood:
12	chr6:28723896..28728359-chr6:28734827..28738855,6	K562	blood:
13	chr6:28724813..28727063-chr6:28829378..28832133,3	K562	blood:
14	chr6:28695145..28698066-chr6:28723238..28727067,5	K562	blood:
15	chr6:28724879..28727227-chr6:28741838..28744076,3	K562	blood:
16	chr6:28724879..28727227-chr6:28741838..28744076,2	K562	blood:
17	chr6:28676549..28680032-chr6:28724574..28727425,3	K562	blood:
18	chr6:28712043..28717130-chr6:28723838..28729658,8	K562	blood:
19	chr6:28687184..28690282-chr6:28725684..28728661,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221191	Chromatin interaction
ENSG00000225595	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1233579	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233580	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233581	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233594	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1233599	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233600	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233604	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233618	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233620	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1233623	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1238262	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1311911	0.98[EUR][1000 genomes]
rs1311912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1311913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13194504	0.87[EUR][1000 genomes]
rs13217472	0.93[EUR][1000 genomes]
rs1742743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3118357	0.80[EUR][1000 genomes]
rs3118359	0.80[EUR][1000 genomes]
rs3118360	0.80[EUR][1000 genomes]
rs3118367	0.80[EUR][1000 genomes]
rs3130838	0.80[EUR][1000 genomes]
rs3131094	0.80[EUR][1000 genomes]
rs3131095	0.80[EUR][1000 genomes]
rs3131096	0.80[EUR][1000 genomes]
rs3131097	0.80[EUR][1000 genomes]
rs3131336	0.80[EUR][1000 genomes]
rs3131340	0.84[EUR][1000 genomes]
rs3131341	0.84[EUR][1000 genomes]
rs3131343	0.85[EUR][1000 genomes]
rs3131345	0.80[EUR][1000 genomes]
rs3132373	0.85[EUR][1000 genomes]
rs3132376	0.80[EUR][1000 genomes]
rs3132384	0.80[EUR][1000 genomes]
rs3132385	0.80[EUR][1000 genomes]
rs3132388	0.80[EUR][1000 genomes]
rs3132389	0.80[EUR][1000 genomes]
rs3132391	0.80[EUR][1000 genomes]
rs3132392	0.80[EUR][1000 genomes]
rs3132396	0.84[EUR][1000 genomes]
rs3135293	0.80[EUR][1000 genomes]
rs3135294	0.82[EUR][1000 genomes]
rs3135295	0.80[EUR][1000 genomes]
rs3135300	0.80[EUR][1000 genomes]
rs3135302	0.80[EUR][1000 genomes]
rs3135304	0.80[EUR][1000 genomes]
rs3135306	0.80[EUR][1000 genomes]
rs3135307	0.80[EUR][1000 genomes]
rs3135308	0.80[EUR][1000 genomes]
rs3135309	0.80[EUR][1000 genomes]
rs3135310	0.80[EUR][1000 genomes]
rs3135311	0.80[EUR][1000 genomes]
rs3135312	0.80[EUR][1000 genomes]
rs3135313	0.80[EUR][1000 genomes]
rs3135316	0.80[EUR][1000 genomes]
rs34724414	0.87[EUR][1000 genomes]
rs35044849	0.87[EUR][1000 genomes]
rs35243068	0.93[EUR][1000 genomes]
rs4324798	0.84[EUR][1000 genomes]
rs6456835	0.94[EUR][1000 genomes]
rs6908726	0.91[EUR][1000 genomes]
rs7761321	0.85[EUR][1000 genomes]
rs7764642	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7766699	0.82[EUR][1000 genomes]
rs7767099	0.85[EUR][1000 genomes]
rs9257133	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9257136	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9257137	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9257140	1.00[EUR][1000 genomes]
rs9257167	0.96[EUR][1000 genomes]
rs9257183	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257184	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257187	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257188	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257189	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257192	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257217	0.85[EUR][1000 genomes]
rs9257223	0.84[EUR][1000 genomes]
rs9257227	0.80[EUR][1000 genomes]
rs9257262	0.80[EUR][1000 genomes]
rs9257272	0.80[EUR][1000 genomes]
rs9257331	0.80[EUR][1000 genomes]
rs9393926	0.91[EUR][1000 genomes]
rs9393929	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1233593	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL
rs1233593	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs1233593	ZFP57	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28726200-28727000	Flanking Bivalent TSS/Enh	HepG2	liver
2	chr6:28726600-28727200	Flanking Active TSS	K562	blood
3	chr6:28726800-28727000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:28726800-28727000	Flanking Active TSS	A549	lung
5	chr6:28726800-28727000	Active TSS	Hela-S3	cervix

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