Variant report

Variant	rs4538567
Chromosome Location	chr5:59948355-59948356
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	RFX5	chr5:59948015-59948496	Hela-S3	cervix:	n/a	n/a
2	JUND	chr5:59948102-59948403	HepG2	liver:	n/a	chr5:59948263-59948274
3	FOSL2	chr5:59947971-59948512	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:59947421-59948512	K562	blood:	n/a	n/a
5	FOSL2	chr5:59948083-59948390	A549	lung:	n/a	n/a
6	FOSL1	chr5:59948005-59948477	HCT-116	colon:	n/a	n/a
7	CEBPB	chr5:59947819-59948439	MCF-7	breast:	n/a	chr5:59948192-59948203
8	GATA3	chr5:59947934-59948451	SK-N-SH	brain:	n/a	n/a
9	MYC	chr5:59948081-59948402	MCF10A-Er-Src	breast:	n/a	n/a
10	MAFK	chr5:59947791-59948401	IMR90	lung:	n/a	n/a
11	PBX3	chr5:59947939-59948447	SK-N-SH	brain:	n/a	n/a
12	ZNF384	chr5:59948062-59948365	K562	blood:	n/a	n/a
13	JUND	chr5:59947923-59948557	SK-N-SH	brain:	n/a	chr5:59948263-59948274
14	JUN	chr5:59948084-59948421	K562	blood:	n/a	n/a
15	JUN	chr5:59947935-59948476	K562	blood:	n/a	n/a
16	BACH1	chr5:59948213-59948360	K562	blood:	n/a	n/a
17	CEBPB	chr5:59947835-59948505	MCF-7	breast:	n/a	chr5:59948192-59948203
18	JUND	chr5:59947887-59948606	SK-N-SH	brain:	n/a	chr5:59948263-59948274
19	JUND	chr5:59947932-59948469	SK-N-SH	brain:	n/a	chr5:59948263-59948274
20	CEBPB	chr5:59948006-59948383	A549	lung:	n/a	chr5:59948192-59948203
21	STAT3	chr5:59948050-59948402	MCF10A-Er-Src	breast:	n/a	n/a
22	CEBPB	chr5:59947390-59948442	IMR90	lung:	n/a	chr5:59948192-59948203
23	FOSL2	chr5:59947940-59948567	SK-N-SH	brain:	n/a	n/a
24	FOSL2	chr5:59948004-59948479	A549	lung:	n/a	n/a
25	IRF1	chr5:59948146-59948381	K562	blood:	n/a	n/a
26	FOS	chr5:59948040-59948472	HUVEC	blood vessel:	n/a	chr5:59948263-59948274
27	EP300	chr5:59948192-59948358	K562	blood:	n/a	n/a
28	JUND	chr5:59948065-59948455	Hela-S3	cervix:	n/a	chr5:59948263-59948274
29	MAFK	chr5:59948111-59948404	K562	blood:	n/a	n/a
30	STAT3	chr5:59948099-59948406	MCF10A-Er-Src	breast:	n/a	n/a
31	FOS	chr5:59948026-59948483	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
32	CEBPB	chr5:59948016-59948391	Hela-S3	cervix:	n/a	chr5:59948192-59948203
33	CEBPB	chr5:59947973-59948387	A549	lung:	n/a	chr5:59948192-59948203
34	FOS	chr5:59948060-59948458	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
35	RFX5	chr5:59947684-59948688	SK-N-SH	brain:	n/a	n/a
36	RFX5	chr5:59947686-59948672	IMR90	lung:	n/a	n/a
37	FOSL2	chr5:59947962-59948478	MCF-7	breast:	n/a	n/a
38	RCOR1	chr5:59948080-59948446	K562	blood:	n/a	n/a
39	FOS	chr5:59948038-59948450	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
40	RFX5	chr5:59948127-59948450	K562	blood:	n/a	n/a
41	CEBPB	chr5:59948060-59948362	HepG2	liver:	n/a	chr5:59948192-59948203
42	CEBPB	chr5:59947994-59948374	K562	blood:	n/a	chr5:59948192-59948203
43	FOS	chr5:59948042-59948459	MCF10A-Er-Src	breast:	n/a	chr5:59948263-59948274
44	MAFF	chr5:59948102-59948392	K562	blood:	n/a	n/a
45	CEBPB	chr5:59947986-59948470	HCT-116	colon:	n/a	chr5:59948192-59948203
46	JUND	chr5:59948013-59948454	K562	blood:	n/a	chr5:59948263-59948274
47	CEBPB	chr5:59947859-59948500	A549	lung:	n/a	chr5:59948192-59948203
48	JUN	chr5:59948067-59948423	Hela-S3	cervix:	n/a	n/a
49	CEBPB	chr5:59947984-59948374	K562	blood:	n/a	chr5:59948192-59948203

Variant related genes	Relation type
DEPDC1B	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10805370	0.80[EUR][1000 genomes]
rs10939857	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11739209	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11739724	0.83[EUR][1000 genomes]
rs11740327	0.84[EUR][1000 genomes]
rs11745077	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11745627	0.84[EUR][1000 genomes]
rs11948543	0.87[EUR][1000 genomes]
rs11951950	0.87[EUR][1000 genomes]
rs11952735	0.86[EUR][1000 genomes]
rs11956023	0.89[EUR][1000 genomes]
rs11959922	0.87[EUR][1000 genomes]
rs12522801	0.80[EUR][1000 genomes]
rs12655515	0.80[EUR][1000 genomes]
rs1379117	0.88[EUR][1000 genomes]
rs1445852	0.87[EUR][1000 genomes]
rs1562235	0.85[EUR][1000 genomes]
rs1816899	0.84[EUR][1000 genomes]
rs1867702	0.84[EUR][1000 genomes]
rs2045356	0.83[EUR][1000 genomes]
rs2061250	0.87[EUR][1000 genomes]
rs2591636	0.89[EUR][1000 genomes]
rs286148	0.82[EUR][1000 genomes]
rs286153	0.90[EUR][1000 genomes]
rs286154	0.90[EUR][1000 genomes]
rs286155	0.90[EUR][1000 genomes]
rs2898287	0.84[EUR][1000 genomes]
rs34395679	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3857236	0.86[EUR][1000 genomes]
rs4353978	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4504343	0.99[ASN][1000 genomes]
rs4538566	0.99[ASN][1000 genomes]
rs4700378	0.81[EUR][1000 genomes]
rs4700379	0.87[EUR][1000 genomes]
rs4700380	0.87[EUR][1000 genomes]
rs4700381	0.86[EUR][1000 genomes]
rs55720622	0.86[EUR][1000 genomes]
rs55854817	0.84[EUR][1000 genomes]
rs56137970	0.87[EUR][1000 genomes]
rs56191602	0.89[EUR][1000 genomes]
rs56347749	0.96[ASN][1000 genomes]
rs57521726	0.80[EUR][1000 genomes]
rs62372964	0.85[EUR][1000 genomes]
rs62373024	0.86[EUR][1000 genomes]
rs62373025	0.85[EUR][1000 genomes]
rs6449483	0.80[EUR][1000 genomes]
rs6449485	0.80[EUR][1000 genomes]
rs6874072	0.80[EUR][1000 genomes]
rs7719726	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9942410	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv598288	chr5:59627555-60003460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv968916	chr5:59944877-59962647	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv436477	chr5:59946381-59952080	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3469266	chr5:59947655-59949357	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv3469265	chr5:59947707-59949341	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3469264	chr5:59947720-59949292	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv5002	chr5:59947755-59949312	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3469267	chr5:59947781-59949270	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4538567	DEPDC1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:59926400-59967800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:59929400-59954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr5:59933400-59965200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:59933600-59981000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:59936600-59961400	Weak transcription	Thymus	Thymus
6	chr5:59936800-59961800	Weak transcription	Fetal Thymus	thymus
7	chr5:59940600-59950200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:59942800-59952000	Weak transcription	Dnd41	blood
9	chr5:59942800-59961600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr5:59943400-59952400	Weak transcription	Placenta	Placenta
11	chr5:59943400-59977000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:59943800-59952600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr5:59944400-59952400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:59945000-59961800	Weak transcription	HepG2	liver
15	chr5:59946400-59952400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:59947200-59948600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:59947400-59948400	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr5:59947400-59948800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:59947400-59949000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr5:59947600-59948600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:59947800-59948400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:59947800-59948600	Enhancers	HSMM	muscle
23	chr5:59948200-59948400	Active TSS	Monocytes-CD14+_RO01746	blood
24	chr5:59948200-59948600	Enhancers	Osteobl	bone
25	chr5:59948200-59948800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:59948200-59948800	Enhancers	NHDF-Ad	bronchial
27	chr5:59948200-59949200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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