Variant report

Variant	rs72917242
Chromosome Location	chr4:124981827-124981828
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	FOS	chr4:124981310-124981861	HUVEC	blood vessel:	n/a	n/a
2	EP300	chr4:124981408-124982086	SK-N-SH_RA	brain:	n/a	chr4:124981834-124981848 chr4:124981852-124981862 chr4:124981956-124981966 chr4:124981511-124981525
3	POLR2A	chr4:124981426-124981994	SK-N-SH	brain:	n/a	n/a
4	GATA3	chr4:124981317-124982473	SK-N-SH	brain:	n/a	chr4:124982113-124982120 chr4:124981587-124981594
5	SPI1	chr4:124981602-124982250	HL-60	blood:	n/a	chr4:124982040-124982053
6	GATA1	chr4:124981359-124981942	PBDE	blood:	n/a	chr4:124981587-124981594
7	SPI1	chr4:124981671-124981892	GM12891	blood:	n/a	n/a
8	TCF7L2	chr4:124981781-124982161	PANC-1	pancreas:	n/a	n/a
9	RAD21	chr4:124981555-124981882	SK-N-SH_RA	brain:	n/a	n/a
10	TCF12	chr4:124981313-124982462	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr4:124981312-124981895	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr4:124981718-124981842	HUVEC	blood vessel:	n/a	n/a
13	CTCF	chr4:124981680-124981830	HPAF	blood vessel:	n/a	n/a
14	TAF1	chr4:124981628-124981829	SK-N-SH	brain:	n/a	n/a
15	SPI1	chr4:124981647-124981903	GM12878	blood:	n/a	n/a
16	TCF12	chr4:124981461-124982270	SK-N-SH	brain:	n/a	n/a
17	GATA3	chr4:124981329-124982466	SK-N-SH	brain:	n/a	chr4:124982113-124982120 chr4:124981587-124981594
18	EP300	chr4:124981341-124982394	SK-N-SH	brain:	n/a	chr4:124981834-124981848 chr4:124982380-124982394 chr4:124981852-124981862 chr4:124981956-124981966 chr4:124981511-124981525
19	SPI1	chr4:124981563-124982302	HL-60	blood:	n/a	chr4:124982040-124982053
20	RAD21	chr4:124981552-124981901	SK-N-SH_RA	brain:	n/a	n/a
21	PBX3	chr4:124981495-124982314	SK-N-SH	brain:	n/a	n/a
22	EP300	chr4:124981503-124981886	SK-N-SH_RA	brain:	n/a	chr4:124981834-124981848 chr4:124981852-124981862 chr4:124981511-124981525

Variant related genes	Relation type
ENSG00000250484	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12506716	1.00[AMR][1000 genomes]
rs58998147	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72915197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917214	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917248	1.00[AMR][1000 genomes]
rs72917250	1.00[AMR][1000 genomes]
rs72917253	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917257	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917266	1.00[AMR][1000 genomes]
rs72917269	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72917272	1.00[AMR][1000 genomes]
rs72917287	1.00[AMR][1000 genomes]
rs72917296	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv868977	chr4:124841128-125550637	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1014750	chr4:124966525-125111807	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1000839	chr4:124966525-125115590	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv1001176	chr4:124977327-124988425	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124981000-124982400	Enhancers	Duodenum Smooth Muscle	Duodenum
2	chr4:124981000-124982800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr4:124981000-124983000	Enhancers	HSMMtube	muscle
4	chr4:124981000-124983400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:124981000-124984200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr4:124981200-124982200	Enhancers	Primary hematopoietic stem cells	blood
7	chr4:124981400-124982000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:124981400-124982200	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr4:124981400-124982400	Enhancers	Colon Smooth Muscle	Colon
10	chr4:124981400-124982400	Enhancers	Fetal Heart	heart
11	chr4:124981400-124982600	Enhancers	NH-A	brain
12	chr4:124981400-124982800	Enhancers	Fetal Lung	lung
13	chr4:124981400-124982800	Enhancers	Rectal Smooth Muscle	rectum
14	chr4:124981400-124982800	Enhancers	HMEC	breast
15	chr4:124981400-124983400	Enhancers	HSMM	muscle
16	chr4:124981400-124983400	Enhancers	NHDF-Ad	bronchial
17	chr4:124981400-124984800	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:124981600-124982000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr4:124981600-124982000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:124981600-124982000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr4:124981600-124982000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:124981600-124982000	Enhancers	Right Atrium	heart
23	chr4:124981600-124982000	Flanking Active TSS	HUVEC	blood vessel
24	chr4:124981600-124982000	Flanking Active TSS	NHLF	lung
25	chr4:124981600-124982200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:124981600-124982200	Enhancers	Primary monocytes fromperipheralblood	blood
27	chr4:124981600-124982200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:124981600-124982200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr4:124981600-124982200	Enhancers	Aorta	Aorta
30	chr4:124981600-124982200	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr4:124981600-124982200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:124981600-124982200	Flanking Active TSS	NHEK	skin
33	chr4:124981600-124982400	Enhancers	Osteobl	bone
34	chr4:124981600-124982600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr4:124981600-124982800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:124981600-124982800	Enhancers	Stomach Smooth Muscle	stomach
37	chr4:124981600-124983200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:124981800-124982000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:124981800-124982200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:124981800-124982200	Enhancers	Stomach Mucosa	stomach
41	chr4:124981800-124982400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:124981800-124982400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:124981800-124982800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr4:124981800-124983400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr4:124981800-124983600	Enhancers	Placenta Amnion	Placenta Amnion

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