Variant report

Variant	rs112143049
Chromosome Location	chr18:44552364-44552365
allele	G/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	FOSL2	chr18:44552058-44554112	HepG2	liver:	n/a	n/a
2	POU2F2	chr18:44552140-44552710	GM12878	blood:	n/a	n/a
3	EP300	chr18:44552201-44552484	GM12878	blood:	n/a	chr18:44552442-44552449
4	CTCF	chr18:44552308-44552416	Gliobla	brain:	n/a	n/a
5	FOSL2	chr18:44551899-44552643	HepG2	liver:	n/a	n/a
6	CTCF	chr18:44552284-44552457	HepG2	liver:	n/a	n/a
7	CTCF	chr18:44552256-44552456	H1-hESC	embryonic stem cell:	n/a	n/a
8	ZBTB33	chr18:44552261-44552509	K562	blood:	n/a	n/a
9	SP1	chr18:44552261-44552629	HepG2	liver:	n/a	chr18:44552546-44552555
10	GABPA	chr18:44552011-44552384	Hela-S3	cervix:	n/a	n/a
11	SIX5	chr18:44552257-44552571	K562	blood:	n/a	n/a
12	CTCF	chr18:44552363-44552374	A549	lung:	n/a	n/a
13	USF1	chr18:44552221-44552423	HepG2	liver:	n/a	n/a
14	POLR2A	chr18:44552153-44552601	H1-hESC	embryonic stem cell:	n/a	n/a
15	JUND	chr18:44551440-44552547	HepG2	liver:	n/a	n/a
16	GABPA	chr18:44551878-44552507	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
TCEB3CL	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:35 , 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	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	esv17377	chr18:44545086-44552701	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
27	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
28	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
29	nsv576818	chr18:44549406-44556500	ZNF genes & repeats Genic enhancers Weak transcription Enhancers	TF binding region CpG island	3 gene(s)	inside rSNPs	diseases
30	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
31	esv3487236	chr18:44551079-44555094	Weak transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
32	esv3487237	chr18:44551079-44555094	ZNF genes & repeats Enhancers Weak transcription Genic enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
33	esv3524914	chr18:44551626-44553731	Weak transcription Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
34	esv3524915	chr18:44551626-44553731	Enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
35	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44550200-44556600	Weak transcription	Fetal Lung	lung
2	chr18:44551800-44553000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr18:44551800-44553000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:44552000-44552400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr18:44552000-44552400	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr18:44552000-44552400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr18:44552200-44552400	Enhancers	iPS-20b Cell Line	embryonic stem cell

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