Variant report

Variant	rs138021235
Chromosome Location	chr18:10241-10242
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:121)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:121 , 50 per page) page: 1 2 3

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	POU2F2	chr18:9943-10608	GM12878	blood:	n/a	n/a
3	REST	chr18:9929-10630	GM12878	blood:	n/a	n/a
4	POLR2A	chr18:9919-10796	PANC-1	pancreas:	n/a	n/a
5	SP1	chr18:9907-10704	A549	lung:	n/a	n/a
6	CTCF	chr18:9954-10660	K562	blood:	n/a	n/a
7	PAX5	chr18:10066-10321	GM12878	blood:	n/a	n/a
8	SIN3AK20	chr18:10078-10393	HepG2	liver:	n/a	n/a
9	PAX5	chr18:9989-10702	GM12878	blood:	n/a	n/a
10	FOXA2	chr18:9945-10851	A549	lung:	n/a	n/a
11	ZBTB33	chr18:9930-10725	K562	blood:	n/a	n/a
12	ZBTB33	chr18:9944-10472	HepG2	liver:	n/a	n/a
13	TCF12	chr18:9949-10689	HepG2	liver:	n/a	n/a
14	EBF1	chr18:10023-10360	GM12878	blood:	n/a	n/a
15	YY1	chr18:9962-10690	A549	lung:	n/a	n/a
16	POLR2A	chr18:9914-10848	GM12891	blood:	n/a	n/a
17	POLR2A	chr18:9968-10373	HepG2	liver:	n/a	n/a
18	BATF	chr18:9958-10337	GM12878	blood:	n/a	n/a
19	FOXP2	chr18:9951-10264	SK-N-MC	brain:	n/a	n/a
20	IRF4	chr18:10009-10748	GM12878	blood:	n/a	n/a
21	NFIC	chr18:9912-10784	GM12878	blood:	n/a	n/a
22	HEY1	chr18:10037-10405	K562	blood:	n/a	n/a
23	ZBTB33	chr18:9995-10373	SK-N-SH	brain:	n/a	n/a
24	ZBTB33	chr18:9913-10817	K562	blood:	n/a	n/a
25	SPI1	chr18:10235-10388	K562	blood:	n/a	n/a
26	SPI1	chr18:10005-10398	GM12878	blood:	n/a	n/a
27	POU2F2	chr18:9934-10750	GM12891	blood:	n/a	n/a
28	CBX3	chr18:9952-10758	K562	blood:	n/a	n/a
29	REST	chr18:9939-10660	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr18:9924-10735	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr18:10072-10396	HepG2	liver:	n/a	n/a
32	CTCF	chr18:10018-10353	K562	blood:	n/a	n/a
33	SIX5	chr18:10044-10688	K562	blood:	n/a	n/a
34	FOSL2	chr18:9930-10672	HepG2	liver:	n/a	n/a
35	ZBTB33	chr18:9917-10758	HepG2	liver:	n/a	n/a
36	POLR2A	chr18:9935-10723	U87	brain:	n/a	n/a
37	TCF3	chr18:9971-10681	GM12878	blood:	n/a	n/a
38	USF1	chr18:10026-10636	HepG2	liver:	n/a	n/a
39	NR2F2	chr18:9938-10739	K562	blood:	n/a	n/a
40	TAF1	chr18:9943-10715	GM12878	blood:	n/a	n/a
41	IRF4	chr18:9912-10693	GM12878	blood:	n/a	n/a
42	EP300	chr18:10023-10453	GM12878	blood:	n/a	n/a
43	POLR2A	chr18:9935-10665	H1-hESC	embryonic stem cell:	n/a	n/a
44	SP1	chr18:9921-10678	HepG2	liver:	n/a	n/a
45	SP1	chr18:9913-10562	K562	blood:	n/a	n/a
46	POLR2A	chr18:9946-10662	GM12878	blood:	n/a	n/a
47	TCF12	chr18:10006-10656	GM12878	blood:	n/a	n/a
48	CEBPB	chr18:9933-10821	GM12878	blood:	n/a	n/a
49	SP1	chr18:10032-10358	HepG2	liver:	n/a	n/a
50	POLR2A	chr18:9945-10643	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000262352	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:10 , 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	chr18:10000-10400	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
3	chr18:10000-10600	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
4	chr18:10000-10600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:10000-10600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
6	chr18:10000-10600	Active TSS	Fetal Heart	heart
7	chr18:10000-11000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
8	chr18:10000-13600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr18:10200-10600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr18:10200-10600	Enhancers	Placenta	Placenta

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