Variant report

Variant	rs548171974
Chromosome Location	chr18:44547127-44547128
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr18:44547010-44547797	HepG2	liver:	n/a	n/a
2	GABPA	chr18:44546745-44547767	Hela-S3	cervix:	n/a	n/a
3	PAX5	chr18:44547041-44547797	GM12878	blood:	n/a	n/a
4	FOXA2	chr18:44546966-44547703	A549	lung:	n/a	n/a
5	BHLHE40	chr18:44546870-44547457	HepG2	liver:	n/a	n/a
6	CTCF	chr18:44547080-44547230	WERI-Rb-1	eye:	n/a	n/a
7	CTCF	chr18:44547080-44547230	HEK293	kidney:	n/a	n/a
8	RXRA	chr18:44547038-44547725	HepG2	liver:	n/a	n/a
9	FOSL2	chr18:44546135-44548214	HepG2	liver:	n/a	n/a
10	ZBTB33	chr18:44546990-44547864	HepG2	liver:	n/a	n/a
11	TCF12	chr18:44546987-44547474	HepG2	liver:	n/a	n/a
12	RXRA	chr18:44546608-44547378	HepG2	liver:	n/a	n/a
13	POU2F2	chr18:44546747-44548271	GM12891	blood:	n/a	n/a
14	CTCF	chr18:44547060-44547210	WI-38	lung:	n/a	n/a
15	JUND	chr18:44547048-44547823	HepG2	liver:	n/a	n/a
16	CTCF	chr18:44547060-44547210	GM12867	blood:	n/a	n/a
17	CTCF	chr18:44547080-44547230	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr18:44547080-44547230	HepG2	liver:	n/a	n/a
19	CTCF	chr18:44547060-44547210	HAc	cerebellar:	n/a	n/a
20	REST	chr18:44546763-44547701	PANC-1	pancreas:	n/a	n/a
21	SIX5	chr18:44547116-44547316	K562	blood:	n/a	n/a
22	JUND	chr18:44547013-44547206	HepG2	liver:	n/a	n/a
23	FOXA1	chr18:44547117-44547674	HepG2	liver:	n/a	n/a
24	FOSL2	chr18:44546834-44547565	HepG2	liver:	n/a	n/a
25	CTCF	chr18:44547060-44547210	GM12868	blood:	n/a	n/a

No data

Variant related genes	Relation type
TCEB3CL2	TF binding region

Extended variants
information (count: 39 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:39 , 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	esv1818108	chr18:44519357-44549177	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv1825684	chr18:44526351-44549177	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	esv1806496	chr18:44542584-44547681	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
27	esv1797177	chr18:44542584-44549177	Weak transcription ZNF genes & repeats Bivalent Enhancer Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
28	esv1808048	chr18:44542584-44549177	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
29	esv1818894	chr18:44542584-44549177	Bivalent Enhancer Weak transcription ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
30	esv1822472	chr18:44542584-44549177	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
31	esv1828221	chr18:44542584-44549177	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
32	esv1829949	chr18:44542584-44549177	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
33	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
34	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
35	nsv576814	chr18:44544793-44549742	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
36	nsv576815	chr18:44544997-44548686	Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
37	esv17377	chr18:44545086-44552701	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island	2 gene(s)	inside rSNPs	diseases
38	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
39	nsv576816	chr18:44546755-44549646	Weak transcription Bivalent Enhancer ZNF genes & repeats Enhancers	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44538200-44551600	Weak transcription	Gastric	stomach
2	chr18:44545200-44547200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:44545200-44552000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:44547000-44547400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr18:44547000-44547400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:44547000-44547400	ZNF genes & repeats	Fetal Stomach	stomach

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