Variant report

Variant	rs536390251
Chromosome Location	chr18:10652-10653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:95)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:95 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPD	chr18:9958-10726	K562	blood:	n/a	n/a
2	POLR2A	chr18:9919-10796	PANC-1	pancreas:	n/a	n/a
3	ZBTB33	chr18:10503-10747	A549	lung:	n/a	n/a
4	SP1	chr18:9907-10704	A549	lung:	n/a	n/a
5	CTCF	chr18:9954-10660	K562	blood:	n/a	n/a
6	GABPA	chr18:10537-10970	H1-hESC	embryonic stem cell:	n/a	n/a
7	PAX5	chr18:9989-10702	GM12878	blood:	n/a	n/a
8	FOXA2	chr18:9945-10851	A549	lung:	n/a	n/a
9	ZBTB33	chr18:9930-10725	K562	blood:	n/a	n/a
10	TCF12	chr18:9949-10689	HepG2	liver:	n/a	n/a
11	YY1	chr18:9962-10690	A549	lung:	n/a	n/a
12	POLR2A	chr18:9914-10848	GM12891	blood:	n/a	n/a
13	RAD21	chr18:10592-10817	H1-hESC	embryonic stem cell:	n/a	n/a
14	IRF4	chr18:10009-10748	GM12878	blood:	n/a	n/a
15	NFIC	chr18:9912-10784	GM12878	blood:	n/a	n/a
16	ZBTB33	chr18:9913-10817	K562	blood:	n/a	n/a
17	POU2F2	chr18:9934-10750	GM12891	blood:	n/a	n/a
18	CBX3	chr18:9952-10758	K562	blood:	n/a	n/a
19	REST	chr18:9939-10660	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr18:9924-10735	H1-hESC	embryonic stem cell:	n/a	n/a
21	SIX5	chr18:10044-10688	K562	blood:	n/a	n/a
22	FOSL2	chr18:9930-10672	HepG2	liver:	n/a	n/a
23	BCL11A	chr18:10392-10708	GM12878	blood:	n/a	n/a
24	TCF12	chr18:10456-10653	GM12878	blood:	n/a	n/a
25	ZBTB33	chr18:9917-10758	HepG2	liver:	n/a	n/a
26	POLR2A	chr18:9935-10723	U87	brain:	n/a	n/a
27	TCF3	chr18:9971-10681	GM12878	blood:	n/a	n/a
28	NR2F2	chr18:9938-10739	K562	blood:	n/a	n/a
29	TAF1	chr18:9943-10715	GM12878	blood:	n/a	n/a
30	IRF4	chr18:9912-10693	GM12878	blood:	n/a	n/a
31	POLR2A	chr18:9935-10665	H1-hESC	embryonic stem cell:	n/a	n/a
32	SP1	chr18:9921-10678	HepG2	liver:	n/a	n/a
33	POLR2A	chr18:9946-10662	GM12878	blood:	n/a	n/a
34	TCF12	chr18:10006-10656	GM12878	blood:	n/a	n/a
35	CEBPB	chr18:9933-10821	GM12878	blood:	n/a	n/a
36	SP1	chr18:9909-10725	A549	lung:	n/a	n/a
37	ZBTB33	chr18:9930-10755	GM12878	blood:	n/a	n/a
38	POU2F2	chr18:9924-10794	GM12878	blood:	n/a	n/a
39	SP1	chr18:9925-10680	GM12878	blood:	n/a	n/a
40	TAF1	chr18:9989-10689	GM12891	blood:	n/a	n/a
41	POLR2A	chr18:9915-10813	GM12878	blood:	n/a	n/a
42	TRIM28	chr18:9919-10789	K562	blood:	n/a	n/a
43	SPI1	chr18:9858-10791	GM12878	blood:	n/a	n/a
44	BATF	chr18:10049-10662	GM12878	blood:	n/a	n/a
45	SIX5	chr18:10023-10667	K562	blood:	n/a	n/a
46	ZBTB33	chr18:10498-10746	A549	lung:	n/a	n/a
47	BCL11A	chr18:9938-10711	GM12878	blood:	n/a	n/a
48	POLR2A	chr18:9922-10801	SK-N-SH	brain:	n/a	n/a
49	ZBTB33	chr18:9911-10803	GM12878	blood:	n/a	n/a
50	POLR2A	chr18:9918-10736	GM12892	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000262352	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv978590	chr18:10001-16279	ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv9599	chr18:10001-68441	Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv909285	chr18:10001-196829	Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv3412625	chr18:10113-10653	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	inside rSNPs	diseases
5	esv3367050	chr18:10252-15150	Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3324470	chr18:10468-63727	Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv3343280	chr18:10652-15050	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr18:8800-11200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr18:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr18:10000-13600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr18:10400-11800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:10600-10800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr18:10600-10800	Flanking Active TSS	Placenta	Placenta
7	chr18:10600-11800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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