Variant report

Variant	rs2108406
Chromosome Location	chr4:111208323-111208324
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	FOSL1	chr4:111208104-111208831	HCT-116	colon:	n/a	n/a
2	FOS	chr4:111208272-111208692	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr4:111208265-111208821	MCF10A-Er-Src	breast:	n/a	n/a
4	FOS	chr4:111208274-111208648	MCF10A-Er-Src	breast:	n/a	n/a
5	SP1	chr4:111208146-111208898	HCT-116	colon:	n/a	n/a
6	IRF4	chr4:111208172-111208737	GM12878	blood:	n/a	n/a
7	FOXM1	chr4:111208228-111208762	GM12878	blood:	n/a	n/a
8	FOSL1	chr4:111208152-111208766	HCT-116	colon:	n/a	n/a
9	BATF	chr4:111208221-111208808	GM12878	blood:	n/a	n/a
10	EBF1	chr4:111208292-111208861	GM12878	blood:	n/a	n/a
11	RCOR1	chr4:111208265-111208658	Hela-S3	cervix:	n/a	n/a
12	MTA3	chr4:111207943-111208874	GM12878	blood:	n/a	n/a
13	FOSL2	chr4:111208216-111208715	MCF-7	breast:	n/a	n/a
14	JUND	chr4:111208009-111208800	GM12878	blood:	n/a	chr4:111208449-111208460
15	STAT3	chr4:111208295-111208756	MCF10A-Er-Src	breast:	n/a	chr4:111208590-111208601
16	MEF2A	chr4:111208220-111208764	GM12878	blood:	n/a	n/a
17	MEF2C	chr4:111208243-111208862	GM12878	blood:	n/a	n/a
18	JUND	chr4:111208230-111208693	SK-N-SH	brain:	n/a	chr4:111208449-111208460
19	BCL3	chr4:111208309-111208737	GM12878	blood:	n/a	n/a
20	RUNX3	chr4:111208221-111208926	GM12878	blood:	n/a	n/a
21	BCLAF1	chr4:111208201-111208788	GM12878	blood:	n/a	n/a
22	RUNX3	chr4:111208210-111208991	GM12878	blood:	n/a	n/a
23	POLR2A	chr4:111208277-111208619	U87	brain:	n/a	n/a
24	EP300	chr4:111208273-111208926	GM12878	blood:	n/a	n/a
25	JUND	chr4:111208268-111208642	Hela-S3	cervix:	n/a	chr4:111208449-111208460
26	JUND	chr4:111208109-111208659	HCT-116	colon:	n/a	chr4:111208449-111208460
27	MYC	chr4:111208312-111208970	MCF10A-Er-Src	breast:	n/a	n/a
28	BCLAF1	chr4:111208248-111208747	GM12878	blood:	n/a	n/a
29	JUND	chr4:111208136-111208797	HCT-116	colon:	n/a	chr4:111208449-111208460
30	ZKSCAN1	chr4:111208276-111208551	Hela-S3	cervix:	n/a	n/a
31	FOSL2	chr4:111208274-111208709	SK-N-SH	brain:	n/a	n/a
32	RFX5	chr4:111208294-111208634	Hela-S3	cervix:	n/a	n/a
33	MAZ	chr4:111208312-111208631	GM12878	blood:	n/a	n/a
34	MEF2A	chr4:111208215-111208677	GM12878	blood:	n/a	n/a
35	BCL11A	chr4:111208206-111208821	GM12878	blood:	n/a	n/a
36	FOS	chr4:111208071-111208720	MCF10A-Er-Src	breast:	n/a	n/a
37	NFIC	chr4:111208176-111208812	GM12878	blood:	n/a	n/a
38	SP1	chr4:111208308-111208745	GM12878	blood:	n/a	n/a
39	EBF1	chr4:111208221-111208607	GM12878	blood:	n/a	n/a
40	IRF4	chr4:111208202-111208743	GM12878	blood:	n/a	n/a
41	JUND	chr4:111208116-111209076	SK-N-SH	brain:	n/a	chr4:111208449-111208460
42	NFIC	chr4:111208135-111208790	SK-N-SH	brain:	n/a	n/a
43	BATF	chr4:111208253-111208668	GM12878	blood:	n/a	n/a
44	ATF2	chr4:111208232-111208954	GM12878	blood:	n/a	n/a
45	EBF1	chr4:111208242-111208638	GM12878	blood:	n/a	n/a
46	JUND	chr4:111208050-111208654	K562	blood:	n/a	chr4:111208449-111208460
47	MYC	chr4:111208305-111208587	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr4:111208132-111208918	MCF10A-Er-Src	breast:	n/a	n/a
49	IKZF1	chr4:111208305-111208936	GM12878	blood:	n/a	n/a
50	NFIC	chr4:111208204-111208977	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ZBED1P1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12647492	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13151687	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs171505	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs244039	0.84[ASN][1000 genomes]
rs244041	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs244043	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs244052	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs244053	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs244057	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs244059	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2713947	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2713948	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2713951	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs420932	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4235401	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4698823	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7696992	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869392	chr4:110945459-111235071	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:111206800-111208600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr4:111208000-111208400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:111208000-111208400	Enhancers	Esophagus	oesophagus
4	chr4:111208000-111208600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:111208000-111208800	Enhancers	HMEC	breast
6	chr4:111208000-111208800	Enhancers	K562	blood
7	chr4:111208000-111209000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr4:111208000-111209000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr4:111208000-111209000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:111208000-111209000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:111208000-111209000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:111208000-111209000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr4:111208000-111209000	Enhancers	HSMM	muscle
14	chr4:111208000-111209000	Enhancers	HSMMtube	muscle
15	chr4:111208000-111209000	Enhancers	NH-A	brain
16	chr4:111208200-111208600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:111208200-111208800	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:111208200-111208800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr4:111208200-111208800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr4:111208200-111208800	Enhancers	Skeletal Muscle Male	skeletal muscle
21	chr4:111208200-111209000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr4:111208200-111209000	Flanking Active TSS	GM12878-XiMat	blood
23	chr4:111208200-111209000	Enhancers	Hela-S3	cervix
24	chr4:111208200-111209000	Enhancers	Osteobl	bone
25	chr4:111208200-111209200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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