Variant report

Variant	rs3131340
Chromosome Location	chr6:28779878-28779879
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28778307..28780155-chr6:28804697..28807128,2	K562	blood:
2	chr6:28779162..28781130-chr6:28862892..28865549,2	K562	blood:
3	chr6:28692413..28694711-chr6:28778373..28780345,2	K562	blood:

Variant related genes	Relation type
ENSG00000224157	Chromatin interaction
ENSG00000225173	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:121)

rs_ID	r²[population]
rs1233579	0.84[EUR][1000 genomes]
rs1233580	0.84[EUR][1000 genomes]
rs1233581	0.84[EUR][1000 genomes]
rs1233583	0.84[EUR][1000 genomes]
rs1233593	0.84[EUR][1000 genomes]
rs1233594	0.84[EUR][1000 genomes]
rs1233599	0.87[EUR][1000 genomes]
rs1233600	0.87[EUR][1000 genomes]
rs1233604	0.87[EUR][1000 genomes]
rs1233618	0.87[EUR][1000 genomes]
rs1233620	0.87[EUR][1000 genomes]
rs1233623	0.87[EUR][1000 genomes]
rs1238262	0.84[EUR][1000 genomes]
rs1311911	0.82[EUR][1000 genomes]
rs1311912	0.84[EUR][1000 genomes]
rs1311913	0.84[EUR][1000 genomes]
rs13206458	0.85[EUR][1000 genomes]
rs13437309	0.86[AFR][1000 genomes]
rs1742743	0.82[EUR][1000 genomes]
rs3118357	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3118359	0.89[EUR][1000 genomes]
rs3118360	0.96[EUR][1000 genomes]
rs3118361	0.85[EUR][1000 genomes]
rs3118364	0.84[EUR][1000 genomes]
rs3118365	0.88[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs3118366	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3118367	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3130837	0.89[EUR][1000 genomes]
rs3130838	0.89[EUR][1000 genomes]
rs3130844	0.85[EUR][1000 genomes]
rs3130845	0.85[EUR][1000 genomes]
rs3130846	0.82[EUR][1000 genomes]
rs3130847	0.85[EUR][1000 genomes]
rs3130885	0.83[EUR][1000 genomes]
rs3130887	0.87[EUR][1000 genomes]
rs3130888	0.85[EUR][1000 genomes]
rs3130892	0.85[EUR][1000 genomes]
rs3130895	0.84[EUR][1000 genomes]
rs3131068	0.85[EUR][1000 genomes]
rs3131069	0.85[EUR][1000 genomes]
rs3131071	0.85[EUR][1000 genomes]
rs3131072	0.85[EUR][1000 genomes]
rs3131073	0.82[EUR][1000 genomes]
rs3131075	0.85[EUR][1000 genomes]
rs3131076	0.85[EUR][1000 genomes]
rs3131093	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3131094	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3131095	0.89[EUR][1000 genomes]
rs3131096	0.89[EUR][1000 genomes]
rs3131097	0.89[EUR][1000 genomes]
rs3131101	0.81[EUR][1000 genomes]
rs3131335	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3131336	0.89[EUR][1000 genomes]
rs3131341	1.00[EUR][1000 genomes]
rs3131343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3131345	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3132373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3132374	0.85[EUR][1000 genomes]
rs3132376	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3132378	0.81[EUR][1000 genomes]
rs3132382	0.85[EUR][1000 genomes]
rs3132384	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3132385	0.89[EUR][1000 genomes]
rs3132387	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132388	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3132389	0.89[EUR][1000 genomes]
rs3132391	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3132392	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3132393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132395	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3132396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3135293	0.89[EUR][1000 genomes]
rs3135294	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3135295	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135297	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3135298	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3135299	0.85[EUR][1000 genomes]
rs3135300	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135304	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135306	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135307	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3135308	0.89[EUR][1000 genomes]
rs3135309	0.89[EUR][1000 genomes]
rs3135310	0.89[EUR][1000 genomes]
rs3135311	0.89[EUR][1000 genomes]
rs3135312	0.89[EUR][1000 genomes]
rs3135313	0.89[EUR][1000 genomes]
rs3135316	0.89[EUR][1000 genomes]
rs3135318	0.85[EUR][1000 genomes]
rs3135325	0.85[EUR][1000 genomes]
rs4324798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6928657	0.90[AFR][1000 genomes]
rs7745088	0.83[AFR][1000 genomes]
rs7760313	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7761321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7764642	0.90[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7766699	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7767099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9257133	0.84[EUR][1000 genomes]
rs9257136	0.84[EUR][1000 genomes]
rs9257137	0.84[EUR][1000 genomes]
rs9257140	0.84[EUR][1000 genomes]
rs9257167	0.87[EUR][1000 genomes]
rs9257183	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257184	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257187	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257188	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257189	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257192	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9257223	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9257227	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9257245	0.88[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9257249	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9257250	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9257262	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9257267	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9257272	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9257331	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv883517	chr6:28751727-28802149	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2322180	chr6:28764675-28780578	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv9558	chr6:28770281-28785058	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv3410540	chr6:28770455-28785112	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3322630	chr6:28770519-28785092	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3486939	chr6:28770525-28785051	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	esv3486940	chr6:28770525-28785051	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3403106	chr6:28770790-28785189	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv970724	chr6:28778144-28784760	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3131340	ZFP57	Cis_1M	lymphoblastoid	RTeQTL
rs3131340	BTN3A2///BTN3A3	Cis_chr	lymphoblastoid	RTeQTL
rs3131340	BTN3A2	Cis_chr	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28778200-28781600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:28778800-28780000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr6:28778800-28780600	Bivalent Enhancer	HepG2	liver
4	chr6:28779000-28780000	Weak transcription	HMEC	breast
5	chr6:28779200-28780200	Enhancers	Hela-S3	cervix
6	chr6:28779400-28780000	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
7	chr6:28779600-28780000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:28779800-28780000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
9	chr6:28779800-28780000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr6:28779800-28780000	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links