Variant report

Variant	rs56079425
Chromosome Location	chr5:111333928-111333929
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	chr5:111332839-111334379	IMR90	lung:	n/a	n/a
2	GATA3	chr5:111333015-111334122	SK-N-SH	brain:	n/a	n/a
3	EP300	chr5:111333122-111334017	SK-N-SH	brain:	n/a	chr5:111333273-111333280 chr5:111333239-111333253
4	FOSL2	chr5:111333198-111334040	SK-N-SH	brain:	n/a	chr5:111333717-111333724 chr5:111333636-111333646 chr5:111333636-111333646 chr5:111333716-111333724 chr5:111333636-111333646 chr5:111333715-111333725 chr5:111333633-111333644 chr5:111333636-111333646 chr5:111333635-111333647
5	RAD21	chr5:111333001-111334055	IMR90	lung:	n/a	chr5:111333136-111333145
6	GATA3	chr5:111332926-111334099	SK-N-SH	brain:	n/a	n/a
7	MEF2A	chr5:111333247-111334004	SK-N-SH	brain:	n/a	n/a
8	RXRA	chr5:111333204-111334014	SK-N-SH	brain:	n/a	chr5:111333715-111333724
9	TEAD4	chr5:111333159-111333952	SK-N-SH	brain:	n/a	n/a
10	EP300	chr5:111333100-111333929	SK-N-SH_RA	brain:	n/a	chr5:111333273-111333280 chr5:111333239-111333253
11	TEAD4	chr5:111333173-111333942	SK-N-SH	brain:	n/a	n/a
12	E2F4	chr5:111333207-111333967	MCF10A-Er-Src	breast:	n/a	n/a
13	FOXM1	chr5:111333335-111333959	SK-N-SH	brain:	n/a	n/a
14	JUND	chr5:111332942-111334079	SK-N-SH	brain:	n/a	chr5:111333717-111333724 chr5:111333636-111333646 chr5:111333636-111333646 chr5:111333716-111333724 chr5:111333636-111333646 chr5:111333715-111333725 chr5:111333633-111333644 chr5:111333636-111333646 chr5:111333635-111333647
15	FOXM1	chr5:111333044-111334171	SK-N-SH	brain:	n/a	n/a
16	FOSL2	chr5:111333297-111333992	SK-N-SH	brain:	n/a	chr5:111333717-111333724 chr5:111333636-111333646 chr5:111333636-111333646 chr5:111333716-111333724 chr5:111333636-111333646 chr5:111333715-111333725 chr5:111333633-111333644 chr5:111333636-111333646 chr5:111333635-111333647
17	JUND	chr5:111333116-111333998	SK-N-SH	brain:	n/a	chr5:111333717-111333724 chr5:111333636-111333646 chr5:111333636-111333646 chr5:111333716-111333724 chr5:111333636-111333646 chr5:111333715-111333725 chr5:111333633-111333644 chr5:111333636-111333646 chr5:111333635-111333647
18	TCF12	chr5:111332935-111334142	SK-N-SH	brain:	n/a	n/a
19	PBX3	chr5:111333251-111334004	SK-N-SH	brain:	n/a	n/a
20	TCF12	chr5:111332815-111334063	SK-N-SH	brain:	n/a	n/a
21	PBX3	chr5:111332974-111334006	SK-N-SH	brain:	n/a	n/a
22	NFIC	chr5:111333002-111334109	SK-N-SH	brain:	n/a	n/a
23	EP300	chr5:111333030-111334066	SK-N-SH	brain:	n/a	chr5:111333273-111333280 chr5:111333239-111333253
24	MEF2A	chr5:111333188-111333941	SK-N-SH	brain:	n/a	n/a
25	JUND	chr5:111333158-111334064	SK-N-SH	brain:	n/a	chr5:111333717-111333724 chr5:111333636-111333646 chr5:111333636-111333646 chr5:111333716-111333724 chr5:111333636-111333646 chr5:111333715-111333725 chr5:111333633-111333644 chr5:111333636-111333646 chr5:111333635-111333647

Variant related genes	Relation type
NREP	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs152291	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs154082	0.84[AMR][1000 genomes]
rs154083	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs154092	0.97[EUR][1000 genomes]
rs154142	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs154143	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1644466	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1677320	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs168876	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs171738	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs173583	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs173900	0.85[EUR][1000 genomes]
rs185345	0.83[EUR][1000 genomes]
rs2201415	1.00[AFR][1000 genomes]
rs248745	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs248746	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs248747	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs256036	0.97[EUR][1000 genomes]
rs256037	0.94[EUR][1000 genomes]
rs256046	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26437	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26571	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26572	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs26573	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2913546	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34929	0.80[EUR][1000 genomes]
rs388450	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs458532	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55684472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55818288	1.00[AFR][1000 genomes]
rs55931388	1.00[AFR][1000 genomes]
rs55948494	1.00[AFR][1000 genomes]
rs55954860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56266887	1.00[AFR][1000 genomes]
rs696829	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs698403	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72786287	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72786291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72786292	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72786301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72788210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72788217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111331400-111336200	Enhancers	NHLF	lung
2	chr5:111331600-111338400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr5:111332400-111335000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr5:111332400-111336200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr5:111332400-111336400	Enhancers	Osteobl	bone
6	chr5:111332400-111337200	Enhancers	NHDF-Ad	bronchial
7	chr5:111332600-111335200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:111332600-111335600	Enhancers	NHEK	skin
9	chr5:111332800-111335200	Enhancers	HMEC	breast
10	chr5:111332800-111335400	Enhancers	HSMMtube	muscle
11	chr5:111333200-111334400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:111333200-111334600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:111333200-111336000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:111333200-111336200	Enhancers	NH-A	brain
15	chr5:111333400-111335800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:111333400-111336000	Enhancers	HSMM	muscle
17	chr5:111333400-111337000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:111333800-111336200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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