Variant report

Variant	rs553601802
Chromosome Location	chr18:44553382-44553383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr18:44552686-44553616	PANC-1	pancreas:	n/a	n/a
2	JUND	chr18:44553029-44553738	HepG2	liver:	n/a	n/a
3	TCF3	chr18:44553305-44553463	GM12878	blood:	n/a	n/a
4	FOSL2	chr18:44552058-44554112	HepG2	liver:	n/a	n/a
5	GABPA	chr18:44552668-44553682	Hela-S3	cervix:	n/a	n/a
6	ZBTB33	chr18:44553031-44553779	HepG2	liver:	n/a	n/a
7	PBX3	chr18:44553149-44553552	GM12878	blood:	n/a	n/a
8	POU2F2	chr18:44552670-44554145	GM12891	blood:	n/a	n/a
9	ZBTB33	chr18:44553056-44553407	K562	blood:	n/a	n/a
10	TCF3	chr18:44553150-44553660	GM12878	blood:	n/a	n/a
11	CTCF	chr18:44553344-44553385	Kidney_OC	kidney:	n/a	n/a
12	RXRA	chr18:44553018-44553640	HepG2	liver:	n/a	n/a
13	SP1	chr18:44552995-44553712	HepG2	liver:	n/a	n/a
14	FOXA2	chr18:44553055-44553618	A549	lung:	n/a	n/a
15	FOSL2	chr18:44553099-44553480	HepG2	liver:	n/a	n/a
16	POLR2A	chr18:44553281-44553562	A549	lung:	n/a	n/a
17	FOXA1	chr18:44553040-44553589	HepG2	liver:	n/a	n/a
18	PAX5	chr18:44552964-44553712	GM12878	blood:	n/a	n/a
19	RXRA	chr18:44553331-44553713	HepG2	liver:	n/a	n/a
20	CTCF	chr18:44553366-44553476	GM19239	blood:	n/a	n/a
21	POLR2A	chr18:44553136-44553552	Gliobla	brain:	n/a	n/a

Variant related genes	Relation type
TCEB3CL	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:33 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1056744	chr18:44509052-44581752	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv909609	chr18:44513071-44597092	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv960276	chr18:44540582-44558292	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
5	esv3330558	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
6	esv3330771	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
7	esv3400776	chr18:44540954-44558652	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
8	esv3335518	chr18:44541054-44558652	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
9	esv3358350	chr18:44541054-44558652	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
10	esv3444563	chr18:44541054-44558652	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
11	nsv821062	chr18:44541754-44557372	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
12	esv14271	chr18:44541908-44557900	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
13	esv1794136	chr18:44542384-44556948	Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
14	esv1797505	chr18:44542384-44556948	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
15	esv1805006	chr18:44542384-44556948	ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Weak transcription	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
16	esv1818381	chr18:44542384-44556948	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
17	esv1818563	chr18:44542384-44556948	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
18	esv1830531	chr18:44542384-44556948	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
19	esv1831487	chr18:44542384-44556948	Weak transcription Genic enhancers Bivalent Enhancer Enhancers ZNF genes & repeats	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
20	esv1845148	chr18:44542384-44556948	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
21	esv1813539	chr18:44542384-44558702	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
22	esv1805582	chr18:44542384-44577288	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
23	esv1830773	chr18:44542584-44558502	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
24	esv1835585	chr18:44542905-44556500	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
25	nsv514871	chr18:44546006-44562254	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island	4 gene(s)	inside rSNPs	diseases
26	nsv2282	chr18:44547638-44590333	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
27	nsv576818	chr18:44549406-44556500	ZNF genes & repeats Genic enhancers Weak transcription Enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
28	nsv909610	chr18:44549455-44602249	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
29	esv3487236	chr18:44551079-44555094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv3487237	chr18:44551079-44555094	ZNF genes & repeats Enhancers Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
31	esv3524914	chr18:44551626-44553731	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
32	esv3524915	chr18:44551626-44553731	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
33	nsv833640	chr18:44552276-44714872	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44550200-44556600	Weak transcription	Fetal Lung	lung
2	chr18:44552400-44555000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr18:44553000-44553600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:44553000-44553600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:44553200-44562600	Weak transcription	Right Ventricle	heart

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