Variant report

Variant	rs77888719
Chromosome Location	chr18:12396774-12396775
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:82)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:82 , 50 per page) page: 1 2

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	MAFK	chr18:12396545-12396811	HepG2	liver:	n/a	n/a
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	ZBTB7A	chr18:12396611-12396824	K562	blood:	n/a	n/a
6	YY1	chr18:12396501-12396830	K562	blood:	n/a	n/a
7	POLR2A	chr18:12396450-12396831	HCT-116	colon:	n/a	n/a
8	FOS	chr18:12396516-12396829	MCF10A-Er-Src	breast:	n/a	n/a
9	MAX	chr18:12396258-12396942	HepG2	liver:	n/a	n/a
10	MAX	chr18:12396470-12396907	K562	blood:	n/a	n/a
11	MAX	chr18:12396267-12396924	ECC-1	luminal epithelium:	n/a	n/a
12	MAZ	chr18:12396455-12396816	Hela-S3	cervix:	n/a	n/a
13	JUN	chr18:12396359-12397042	K562	blood:	n/a	n/a
14	MAX	chr18:12396177-12396982	HCT-116	colon:	n/a	n/a
15	RCOR1	chr18:12396472-12396835	K562	blood:	n/a	n/a
16	MAFK	chr18:12396578-12396812	K562	blood:	n/a	n/a
17	YY1	chr18:12396459-12396865	HepG2	liver:	n/a	n/a
18	MAX	chr18:12396535-12396786	K562	blood:	n/a	n/a
19	NRF1	chr18:12396570-12396921	Hela-S3	cervix:	n/a	chr18:12396743-12396754
20	MAX	chr18:12396507-12396834	K562	blood:	n/a	n/a
21	FOS	chr18:12396518-12396776	MCF10A-Er-Src	breast:	n/a	n/a
22	E2F6	chr18:12396557-12396822	K562	blood:	n/a	n/a
23	BHLHE40	chr18:12396492-12396799	HepG2	liver:	n/a	n/a
24	CHD2	chr18:12396430-12396836	Hela-S3	cervix:	n/a	n/a
25	FOS	chr18:12396525-12396830	MCF10A-Er-Src	breast:	n/a	n/a
26	MAZ	chr18:12396517-12396820	K562	blood:	n/a	n/a
27	JUND	chr18:12396211-12397002	HCT-116	colon:	n/a	chr18:12396663-12396674
28	MAX	chr18:12396341-12396967	ECC-1	luminal epithelium:	n/a	n/a
29	NFIC	chr18:12396308-12396985	ECC-1	luminal epithelium:	n/a	n/a
30	USF2	chr18:12396399-12396804	Hela-S3	cervix:	n/a	chr18:12396579-12396590
31	MAX	chr18:12396340-12396935	HepG2	liver:	n/a	n/a
32	POLR2A	chr18:12396377-12396890	HCT-116	colon:	n/a	n/a
33	MYC	chr18:12396511-12396799	MCF-7	breast:	n/a	n/a
34	MAX	chr18:12396481-12396890	A549	lung:	n/a	n/a
35	NRF1	chr18:12396696-12396791	HepG2	liver:	n/a	chr18:12396743-12396754
36	FOS	chr18:12396535-12396799	MCF10A-Er-Src	breast:	n/a	n/a
37	MAX	chr18:12396392-12396963	MCF-7	breast:	n/a	n/a
38	MYC	chr18:12396539-12396776	MCF10A-Er-Src	breast:	n/a	n/a
39	RAD21	chr18:12396402-12396784	HepG2	liver:	n/a	n/a
40	MAFF	chr18:12396480-12396801	HepG2	liver:	n/a	n/a
41	CEBPB	chr18:12396425-12396835	Hela-S3	cervix:	n/a	n/a
42	MAX	chr18:12396321-12397028	HCT-116	colon:	n/a	n/a
43	RCOR1	chr18:12396398-12396839	Hela-S3	cervix:	n/a	n/a
44	TCF7L2	chr18:12396508-12396788	MCF-7	breast:	n/a	chr18:12396637-12396651
45	RAD21	chr18:12396471-12396781	HepG2	liver:	n/a	n/a
46	TCF7L2	chr18:12396363-12396851	HCT-116	colon:	n/a	chr18:12396637-12396651
47	MXI1	chr18:12396496-12396794	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr18:12396352-12396849	ECC-1	luminal epithelium:	n/a	n/a
49	MAX	chr18:12396295-12396967	MCF-7	breast:	n/a	n/a
50	JUND	chr18:12396362-12396822	Hela-S3	cervix:	n/a	chr18:12396663-12396674

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:12396537..12397287-chr18:12423683..12424400,2	MCF-7	breast:
2	chr18:12396554..12398179-chr18:12529767..12532536,2	K562	blood:
3	chr18:12391783..12399361-chr18:12419089..12424121,12	MCF-7	breast:
4	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:
5	chr18:12391024..12393985-chr18:12396752..12399571,2	K562	blood:
6	chr18:12396027..12396913-chr18:12422599..12423644,3	MCF-7	breast:
7	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
8	chr18:12394534..12398086-chr18:12656747..12659714,3	MCF-7	breast:
9	chr18:12395095..12397958-chr18:12408142..12409691,2	MCF-7	breast:
10	chr18:12395925..12398369-chr18:12399958..12402422,3	MCF-7	breast:

No data

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
11	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
12	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 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	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	chr18:12396000-12397000	Flanking Active TSS	HepG2	liver
4	chr18:12396200-12396800	Flanking Active TSS	Hela-S3	cervix
5	chr18:12396200-12397000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12396400-12397000	Enhancers	Colonic Mucosa	Colon
7	chr18:12396400-12397000	Flanking Active TSS	K562	blood
8	chr18:12396600-12396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr18:12396600-12396800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr18:12396600-12397000	Active TSS	A549	lung
11	chr18:12396600-12397600	Enhancers	Placenta	Placenta
12	chr18:12396600-12401800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr18:12396600-12404000	Weak transcription	Right Atrium	heart

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