Variant report

Variant	rs560989712
Chromosome Location	chr18:12396528-12396529
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:126)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:126 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr18:12396403-12396913	MCF-7	breast:	n/a	n/a
2	JUND	chr18:12396519-12396759	HepG2	liver:	n/a	chr18:12396663-12396674
3	CBX3	chr18:12396297-12396914	HCT-116	colon:	n/a	n/a
4	RAD21	chr18:12396331-12396843	MCF-7	breast:	n/a	n/a
5	YY1	chr18:12396501-12396830	K562	blood:	n/a	n/a
6	POLR2A	chr18:12396450-12396831	HCT-116	colon:	n/a	n/a
7	RAD21	chr18:12396477-12396751	H1-hESC	embryonic stem cell:	n/a	n/a
8	FOS	chr18:12396516-12396829	MCF10A-Er-Src	breast:	n/a	n/a
9	CTCF	chr18:12396500-12396650	Caco-2	colon:	n/a	n/a
10	MAX	chr18:12396258-12396942	HepG2	liver:	n/a	n/a
11	CTCF	chr18:12396470-12396677	MCF-7	breast:	n/a	n/a
12	CTCF	chr18:12396500-12396650	MCF-7	breast:	n/a	n/a
13	CTCF	chr18:12396527-12396642	LNCaP	prostate:	n/a	n/a
14	RCOR1	chr18:12396455-12396757	HepG2	liver:	n/a	n/a
15	MAX	chr18:12396470-12396907	K562	blood:	n/a	n/a
16	MAX	chr18:12396267-12396924	ECC-1	luminal epithelium:	n/a	n/a
17	MAZ	chr18:12396455-12396816	Hela-S3	cervix:	n/a	n/a
18	JUN	chr18:12396359-12397042	K562	blood:	n/a	n/a
19	MAX	chr18:12396177-12396982	HCT-116	colon:	n/a	n/a
20	CTCF	chr18:12396440-12396590	Hela-S3	cervix:	n/a	n/a
21	MYC	chr18:12396519-12396752	K562	blood:	n/a	n/a
22	CTCF	chr18:12396451-12396715	MCF-7	breast:	n/a	n/a
23	RCOR1	chr18:12396472-12396835	K562	blood:	n/a	n/a
24	RAD21	chr18:12396491-12396616	K562	blood:	n/a	n/a
25	YY1	chr18:12396459-12396865	HepG2	liver:	n/a	n/a
26	MAX	chr18:12396507-12396834	K562	blood:	n/a	n/a
27	CTCF	chr18:12396437-12396755	MCF-7	breast:	n/a	n/a
28	ZNF143	chr18:12396424-12396631	K562	blood:	n/a	n/a
29	MAFK	chr18:12396511-12396769	HepG2	liver:	n/a	n/a
30	CTCF	chr18:12396420-12396570	MCF-7	breast:	n/a	n/a
31	FOS	chr18:12396518-12396776	MCF10A-Er-Src	breast:	n/a	n/a
32	RAD21	chr18:12396445-12396716	K562	blood:	n/a	n/a
33	CTCF	chr18:12396500-12396650	HEEpiC	esophagus:	n/a	n/a
34	BHLHE40	chr18:12396492-12396799	HepG2	liver:	n/a	n/a
35	CHD2	chr18:12396430-12396836	Hela-S3	cervix:	n/a	n/a
36	GTF2F1	chr18:12396417-12396738	Hela-S3	cervix:	n/a	n/a
37	FOS	chr18:12396525-12396830	MCF10A-Er-Src	breast:	n/a	n/a
38	CTCF	chr18:12396489-12396679	K562	blood:	n/a	n/a
39	JUND	chr18:12396528-12396658	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAZ	chr18:12396517-12396820	K562	blood:	n/a	n/a
41	JUND	chr18:12396211-12397002	HCT-116	colon:	n/a	chr18:12396663-12396674
42	CTCF	chr18:12396444-12396714	MCF-7	breast:	n/a	n/a
43	MAX	chr18:12396341-12396967	ECC-1	luminal epithelium:	n/a	n/a
44	NFIC	chr18:12396308-12396985	ECC-1	luminal epithelium:	n/a	n/a
45	CTCF	chr18:12396480-12396630	Hela-S3	cervix:	n/a	n/a
46	ELK1	chr18:12396432-12396740	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr18:12396520-12396670	HEK293	kidney:	n/a	n/a
48	USF2	chr18:12396399-12396804	Hela-S3	cervix:	n/a	chr18:12396579-12396590
49	MYC	chr18:12396510-12396768	MCF-7	breast:	n/a	n/a
50	SMC3	chr18:12396359-12396647	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12391783..12399361-chr18:12419089..12424121,12	MCF-7	breast:
2	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:
3	chr18:12396027..12396913-chr18:12422599..12423644,3	MCF-7	breast:
4	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
5	chr18:12394534..12398086-chr18:12656747..12659714,3	MCF-7	breast:
6	chr18:12395095..12397958-chr18:12408142..12409691,2	MCF-7	breast:
7	chr18:12395925..12398369-chr18:12399958..12402422,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU7-129P	TF binding region
ENSG00000128789	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000215527	Chromatin interaction
ENSG00000134278	Chromatin interaction
ENSG00000251937	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv1060728	chr18:12364077-12410409	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription 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	36 gene(s)	inside rSNPs	diseases
9	nsv978720	chr18:12395653-12408191	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	nsv9609	chr18:12396442-12399505	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394600-12401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:12394800-12396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12394800-12396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:12394800-12396600	Weak transcription	A549	lung
6	chr18:12396000-12397000	Flanking Active TSS	HepG2	liver
7	chr18:12396200-12396800	Flanking Active TSS	Hela-S3	cervix
8	chr18:12396200-12397000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12396400-12397000	Enhancers	Colonic Mucosa	Colon
10	chr18:12396400-12397000	Flanking Active TSS	K562	blood

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