Variant report

Variant	rs9547271
Chromosome Location	chr13:86160646-86160647
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr13:86160370-86161625	A549	lung:	n/a	n/a
2	FOSL2	chr13:86160528-86161092	MCF-7	breast:	n/a	n/a
3	NR2F2	chr13:86160502-86161236	MCF-7	breast:	n/a	n/a
4	GABPA	chr13:86160450-86160908	MCF-7	breast:	n/a	n/a
5	FOS	chr13:86160477-86161406	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr13:86160611-86161062	SK-N-SH_RA	brain:	n/a	n/a
7	SP1	chr13:86160478-86161472	A549	lung:	n/a	n/a
8	EP300	chr13:86160395-86161428	A549	lung:	n/a	n/a
9	FOS	chr13:86160483-86161486	MCF10A-Er-Src	breast:	n/a	n/a
10	EP300	chr13:86160474-86161471	A549	lung:	n/a	n/a
11	GATA3	chr13:86160478-86161308	MCF-7	breast:	n/a	n/a
12	EP300	chr13:86160432-86161023	SK-N-SH_RA	brain:	n/a	n/a
13	MAFK	chr13:86160544-86160865	IMR90	lung:	n/a	n/a
14	STAT3	chr13:86160523-86161364	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr13:86160593-86160895	MCF-7	breast:	n/a	n/a
16	JUND	chr13:86160528-86160920	A549	lung:	n/a	n/a
17	PBX3	chr13:86160478-86161010	SK-N-SH	brain:	n/a	n/a
18	GATA3	chr13:86160531-86161174	MCF-7	breast:	n/a	n/a
19	JUND	chr13:86160433-86161022	SK-N-SH	brain:	n/a	n/a
20	HDAC2	chr13:86160529-86160921	MCF-7	breast:	n/a	n/a
21	ATF3	chr13:86160565-86161037	A549	lung:	n/a	n/a
22	FOS	chr13:86160504-86161385	MCF10A-Er-Src	breast:	n/a	n/a
23	ZNF217	chr13:86160535-86161153	MCF-7	breast:	n/a	n/a
24	GATA3	chr13:86160459-86161313	SK-N-SH	brain:	n/a	n/a
25	NFIC	chr13:86160419-86161219	SK-N-SH	brain:	n/a	n/a
26	TCF7L2	chr13:86160593-86160973	MCF-7	breast:	n/a	n/a
27	TCF12	chr13:86160483-86161173	MCF-7	breast:	n/a	n/a
28	GATA3	chr13:86160487-86161061	T-47D	breast:	n/a	n/a
29	TCF12	chr13:86160426-86161080	SK-N-SH	brain:	n/a	n/a
30	FOXM1	chr13:86160348-86160956	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr13:86160510-86160867	U87	brain:	n/a	n/a
32	GATA3	chr13:86160496-86161354	MCF-7	breast:	n/a	n/a
33	NR3C1	chr13:86160572-86160926	A549	lung:	n/a	n/a
34	STAT3	chr13:86160533-86161039	MCF10A-Er-Src	breast:	n/a	n/a
35	GATA3	chr13:86160435-86161607	A549	lung:	n/a	n/a
36	CHD2	chr13:86160611-86160811	Hela-S3	cervix:	n/a	n/a
37	CREB1	chr13:86160524-86160763	A549	lung:	n/a	n/a
38	JUND	chr13:86160456-86160971	A549	lung:	n/a	n/a
39	STAT3	chr13:86160475-86161010	MCF10A-Er-Src	breast:	n/a	n/a
40	SP1	chr13:86160393-86161138	A549	lung:	n/a	n/a
41	MYC	chr13:86160585-86161346	MCF10A-Er-Src	breast:	n/a	n/a
42	PBX3	chr13:86160520-86161110	SK-N-SH	brain:	n/a	n/a
43	REST	chr13:86160580-86161324	A549	lung:	n/a	n/a
44	GABPA	chr13:86160474-86161030	A549	lung:	n/a	n/a
45	POLR2A	chr13:86160549-86160895	SK-N-SH	brain:	n/a	n/a
46	FOXA1	chr13:86160589-86160816	T-47D	breast:	n/a	n/a
47	EP300	chr13:86160508-86160961	T-47D	breast:	n/a	n/a
48	FOSL2	chr13:86160413-86161547	A549	lung:	n/a	n/a
49	RAD21	chr13:86160604-86160905	Hela-S3	cervix:	n/a	n/a
50	EP300	chr13:86160522-86160959	MCF-7	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:86160634..86163569-chr13:86372135..86374824,2	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-72P	TF binding region
ENSG00000184564	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12854601	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34103441	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34227361	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34971145	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35417943	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9547275	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547277	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547278	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547279	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547280	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9547281	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9602779	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916866	chr13:85505771-86241562	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv1050105	chr13:85524968-86218429	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv541857	chr13:85524968-86218429	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2752724	chr13:85810499-86320999	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1037563	chr13:85830511-86414012	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1053499	chr13:85959321-86197157	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv541859	chr13:85959321-86197157	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv471162	chr13:85994700-86296819	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv456051	chr13:85994700-86306452	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv562609	chr13:85994700-86306452	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv428608	chr13:86109178-86262577	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:86156000-86162400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:86159600-86161200	Weak transcription	A549	lung
3	chr13:86159800-86162600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr13:86160000-86161000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:86160200-86160800	Weak transcription	HMEC	breast
6	chr13:86160200-86164000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:86160600-86161400	Enhancers	Dnd41	blood
8	chr13:86160600-86161600	Enhancers	Hela-S3	cervix

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