Variant report

Variant	rs2870466
Chromosome Location	chr16:75231741-75231742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr16:75231558-75231771	K562	blood:	n/a	n/a
2	SP1	chr16:75231523-75232066	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr16:75231600-75231750	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr16:75231573-75231816	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr16:75231415-75231843	HepG2	liver:	n/a	n/a
6	JUND	chr16:75231690-75231908	H1-hESC	embryonic stem cell:	n/a	n/a
7	RCOR1	chr16:75231689-75232035	HepG2	liver:	n/a	n/a
8	UBTF	chr16:75231694-75231859	K562	blood:	n/a	n/a
9	RAD21	chr16:75231487-75231775	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr16:75231600-75231750	HMEC	breast:	n/a	n/a
11	RAD21	chr16:75231467-75231926	MCF-7	breast:	n/a	n/a
12	JUND	chr16:75231628-75231821	K562	blood:	n/a	n/a
13	CTCF	chr16:75231585-75231751	MCF-7	breast:	n/a	n/a
14	CEBPB	chr16:75231512-75231913	MCF-7	breast:	n/a	n/a
15	CTCF	chr16:75231583-75231759	MCF-7	breast:	n/a	n/a
16	RAD21	chr16:75231398-75231940	HCT-116	colon:	n/a	n/a
17	ELF1	chr16:75231667-75232017	K562	blood:	n/a	n/a
18	RAD21	chr16:75231529-75231781	K562	blood:	n/a	n/a
19	SMC3	chr16:75231583-75231795	Hela-S3	cervix:	n/a	n/a
20	SP1	chr16:75231568-75231954	H1-hESC	embryonic stem cell:	n/a	n/a
21	SMC3	chr16:75231583-75232001	K562	blood:	n/a	n/a
22	CTCF	chr16:75231418-75231788	K562	blood:	n/a	n/a
23	CTCF	chr16:75231588-75231754	GM19238	blood:	n/a	n/a
24	CTCF	chr16:75231508-75231836	K562	blood:	n/a	n/a
25	RCOR1	chr16:75231649-75232358	K562	blood:	n/a	n/a
26	CTCF	chr16:75231491-75231749	K562	blood:	n/a	n/a
27	CTCF	chr16:75231600-75231750	K562	blood:	n/a	n/a
28	CTCF	chr16:75231580-75231771	MCF-7	breast:	n/a	n/a
29	RAD21	chr16:75231599-75231751	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr16:75231425-75231907	MCF-7	breast:	n/a	n/a
31	CTCF	chr16:75231593-75231784	GM12878	blood:	n/a	n/a
32	CEBPB	chr16:75231547-75231861	HepG2	liver:	n/a	n/a
33	RCOR1	chr16:75231696-75231994	K562	blood:	n/a	n/a
34	CTCF	chr16:75231584-75231744	Hela-S3	cervix:	n/a	n/a
35	CTCF	chr16:75231600-75231750	MCF-7	breast:	n/a	n/a
36	CTCF	chr16:75231565-75231769	MCF-7	breast:	n/a	n/a
37	CTCF	chr16:75231640-75231790	GM12866	blood:	n/a	n/a
38	CTCF	chr16:75231680-75231830	BE2_C	brain:	n/a	n/a
39	CTCF	chr16:75231428-75231879	MCF-7	breast:	n/a	n/a
40	RAD21	chr16:75231440-75231861	ECC-1	luminal epithelium:	n/a	n/a
41	SMC3	chr16:75231626-75231846	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:75182384..75183899-chr16:75231105..75233617,2	MCF-7	breast:
2	chr16:75150173..75150731-chr16:75231177..75232104,2	MCF-7	breast:
3	chr11:118798787..118799387-chr16:75231220..75231999,2	MCF-7	breast:
4	chr16:75207264..75209750-chr16:75229657..75232192,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213318	TF binding region
ENSG00000166816	Chromatin interaction
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1019539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10871304	0.88[EUR][1000 genomes]
rs12918452	0.80[EUR][1000 genomes]
rs1559361	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2870467	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4479268	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4737	0.82[EUR][1000 genomes]
rs4887808	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888355	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4888356	1.00[ASN][1000 genomes]
rs6564219	0.81[AMR][1000 genomes]
rs6564220	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6564221	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564222	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564223	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7205074	0.88[EUR][1000 genomes]
rs8046665	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8050765	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8053265	0.88[EUR][1000 genomes]
rs8055472	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8057843	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9921632	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75225400-75231800	Weak transcription	Fetal Heart	heart
2	chr16:75228400-75232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:75230200-75232400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:75231000-75232000	Weak transcription	Pancreas	Pancrea
5	chr16:75231600-75231800	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr16:75231600-75231800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:75231600-75231800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:75231600-75231800	Bivalent Enhancer	NHDF-Ad	bronchial
9	chr16:75231600-75231800	Bivalent Enhancer	NHLF	lung
10	chr16:75231600-75232000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr16:75231600-75232000	Bivalent Enhancer	K562	blood
12	chr16:75231600-75232200	Enhancers	Placenta	Placenta
13	chr16:75231600-75232600	Flanking Bivalent TSS/Enh	HepG2	liver

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