Variant report

Variant	rs72955506
Chromosome Location	chr4:148698778-148698779
allele	A/G
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	RAD21	chr4:148698739-148698994	SK-N-SH_RA	brain:	n/a	n/a
2	JUND	chr4:148698533-148699149	SK-N-SH	brain:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
3	JUND	chr4:148698638-148699179	Hela-S3	cervix:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
4	GATA2	chr4:148698592-148699117	HUVEC	blood vessel:	n/a	n/a
5	JUN	chr4:148698648-148698985	HUVEC	blood vessel:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
6	NR2F2	chr4:148698628-148698964	MCF-7	breast:	n/a	n/a
7	FOSL1	chr4:148698553-148699279	HCT-116	colon:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
8	FOSL2	chr4:148698648-148699012	SK-N-SH	brain:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
9	JUND	chr4:148698712-148698944	K562	blood:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
10	RXRA	chr4:148698560-148699182	SK-N-SH	brain:	n/a	chr4:148698809-148698818 chr4:148698729-148698745
11	ATF1	chr4:148698678-148698923	K562	blood:	n/a	n/a
12	JUND	chr4:148698750-148698926	HepG2	liver:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
13	FOSL2	chr4:148698633-148699109	MCF-7	breast:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
14	TCF12	chr4:148698576-148699171	SK-N-SH	brain:	n/a	n/a
15	FOSL2	chr4:148698582-148699122	A549	lung:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
16	FOSL1	chr4:148698551-148699192	HCT-116	colon:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
17	EP300	chr4:148698686-148698948	Hela-S3	cervix:	n/a	chr4:148698834-148698841
18	CBX3	chr4:148698600-148699127	HCT-116	colon:	n/a	n/a
19	FOSL2	chr4:148698602-148699147	SK-N-SH	brain:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
20	EP300	chr4:148698599-148699010	SK-N-SH_RA	brain:	n/a	chr4:148698834-148698841
21	RAD21	chr4:148698658-148698880	Hela-S3	cervix:	n/a	n/a
22	SRF	chr4:148698548-148699165	HCT-116	colon:	n/a	n/a
23	JUND	chr4:148698595-148699192	HCT-116	colon:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
24	TCF12	chr4:148698488-148699179	SK-N-SH	brain:	n/a	n/a
25	EP300	chr4:148698584-148699004	SK-N-SH_RA	brain:	n/a	chr4:148698834-148698841
26	SP1	chr4:148698556-148699300	HCT-116	colon:	n/a	chr4:148698861-148698874
27	STAT3	chr4:148698760-148698960	MCF10A-Er-Src	breast:	n/a	chr4:148698821-148698830
28	RCOR1	chr4:148698645-148698955	Hela-S3	cervix:	n/a	n/a
29	CBX3	chr4:148698553-148699289	HCT-116	colon:	n/a	n/a
30	STAT3	chr4:148698653-148698990	MCF10A-Er-Src	breast:	n/a	chr4:148698821-148698830
31	JUND	chr4:148698551-148699161	HCT-116	colon:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
32	SP1	chr4:148698581-148699222	HCT-116	colon:	n/a	chr4:148698861-148698874
33	GATA3	chr4:148698565-148699222	SK-N-SH	brain:	n/a	n/a
34	JUND	chr4:148698581-148698927	A549	lung:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
35	JUND	chr4:148698563-148699145	SK-N-SH	brain:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831 chr4:148698820-148698831
36	EP300	chr4:148698586-148699148	SK-N-SH	brain:	n/a	chr4:148698834-148698841
37	STAT3	chr4:148698752-148698960	MCF10A-Er-Src	breast:	n/a	chr4:148698821-148698830
38	RXRA	chr4:148698549-148698966	SK-N-SH	brain:	n/a	chr4:148698809-148698818 chr4:148698729-148698745
39	CEBPB	chr4:148698649-148698920	Hela-S3	cervix:	n/a	n/a
40	MYC	chr4:148698752-148698944	MCF10A-Er-Src	breast:	n/a	chr4:148698822-148698831
41	GATA3	chr4:148698608-148699154	MCF-7	breast:	n/a	n/a
42	SP1	chr4:148698520-148699007	A549	lung:	n/a	chr4:148698861-148698874
43	FOSL2	chr4:148698621-148699074	MCF-7	breast:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
44	FOS	chr4:148698688-148699049	HUVEC	blood vessel:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
45	NR2F2	chr4:148698552-148699144	MCF-7	breast:	n/a	n/a
46	PBX3	chr4:148698504-148699123	SK-N-SH	brain:	n/a	n/a
47	TCF7L2	chr4:148698641-148698841	Hela-S3	cervix:	n/a	chr4:148698821-148698830
48	GATA3	chr4:148698554-148699220	SK-N-SH	brain:	n/a	n/a
49	JUN	chr4:148698680-148699141	Hela-S3	cervix:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831
50	FOS	chr4:148698652-148698999	MCF10A-Er-Src	breast:	n/a	chr4:148698821-148698831 chr4:148698821-148698830 chr4:148698820-148698831

No.	Distal block	Cell Line	Cell type
1	chr4:148692638..148695831-chr4:148697652..148700222,4	MCF-7	breast:
2	chr4:148697444..148700218-chr4:148710161..148711929,2	MCF-7	breast:
3	chr4:148651510..148654715-chr4:148697202..148699343,3	MCF-7	breast:

Variant related genes	Relation type
MIR4799	TF binding region
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10011891	1.00[AMR][1000 genomes]
rs10023419	1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	1.00[AMR][1000 genomes]
rs10034181	1.00[AMR][1000 genomes]
rs11931510	1.00[AMR][1000 genomes]
rs11932755	0.83[AMR][1000 genomes]
rs11932883	0.83[AMR][1000 genomes]
rs28416885	1.00[AMR][1000 genomes]
rs28579791	1.00[AMR][1000 genomes]
rs34001293	0.83[AMR][1000 genomes]
rs57632432	0.83[AMR][1000 genomes]
rs58012022	0.83[AMR][1000 genomes]
rs58285779	0.83[AMR][1000 genomes]
rs58965352	1.00[AMR][1000 genomes]
rs59938265	0.83[AMR][1000 genomes]
rs61312957	0.83[AMR][1000 genomes]
rs61355480	0.83[AMR][1000 genomes]
rs61363583	0.83[AMR][1000 genomes]
rs72945871	0.83[AMR][1000 genomes]
rs72945873	0.83[AMR][1000 genomes]
rs72945877	0.83[AMR][1000 genomes]
rs72945879	0.83[AMR][1000 genomes]
rs72945896	0.83[AMR][1000 genomes]
rs72947812	0.83[AMR][1000 genomes]
rs72947824	0.83[AMR][1000 genomes]
rs72947833	0.83[AMR][1000 genomes]
rs72947849	0.83[AMR][1000 genomes]
rs72947870	0.83[AMR][1000 genomes]
rs72947876	0.83[AMR][1000 genomes]
rs72947892	0.83[AMR][1000 genomes]
rs72949789	0.83[AMR][1000 genomes]
rs72949795	0.83[AMR][1000 genomes]
rs72949796	0.83[AMR][1000 genomes]
rs72949798	1.00[AMR][1000 genomes]
rs72951406	1.00[AMR][1000 genomes]
rs72951412	1.00[AMR][1000 genomes]
rs72951422	1.00[AMR][1000 genomes]
rs72951423	1.00[AMR][1000 genomes]
rs72953473	1.00[AMR][1000 genomes]
rs72953477	1.00[AMR][1000 genomes]
rs72953481	1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	1.00[AMR][1000 genomes]
rs9996365	1.00[AMR][1000 genomes]
rs9997304	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
3	nsv880242	chr4:148659137-148727355	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148689600-148700200	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr4:148689800-148699400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:148689800-148700400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:148693200-148700600	Enhancers	Colon Smooth Muscle	Colon
5	chr4:148693800-148699800	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr4:148694600-148699400	Enhancers	Fetal Muscle Leg	muscle
7	chr4:148694800-148708400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:148695000-148699600	Enhancers	Left Ventricle	heart
9	chr4:148695200-148701400	Weak transcription	Small Intestine	intestine
10	chr4:148695400-148707400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr4:148695600-148699200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:148695600-148699400	Weak transcription	Adipose Nuclei	Adipose
13	chr4:148695600-148700000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:148695600-148706400	Weak transcription	Fetal Stomach	stomach
15	chr4:148696000-148698800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr4:148696000-148698800	Enhancers	Fetal Muscle Trunk	muscle
17	chr4:148696000-148699400	Enhancers	Fetal Heart	heart
18	chr4:148696200-148699200	Enhancers	Fetal Intestine Large	intestine
19	chr4:148696400-148700800	Enhancers	Right Ventricle	heart
20	chr4:148696600-148698800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr4:148696600-148699600	Enhancers	A549	lung
22	chr4:148697000-148701600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr4:148697000-148706400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:148697400-148699800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr4:148697600-148699400	Enhancers	HSMMtube	muscle
26	chr4:148697600-148699600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr4:148697600-148700200	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr4:148697600-148702000	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr4:148697800-148698800	Enhancers	Stomach Mucosa	stomach
30	chr4:148697800-148699200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:148697800-148699200	Genic enhancers	Aorta	Aorta
32	chr4:148697800-148699200	Enhancers	GM12878-XiMat	blood
33	chr4:148697800-148699400	Enhancers	Psoas Muscle	Psoas
34	chr4:148697800-148699400	Enhancers	Hela-S3	cervix
35	chr4:148697800-148699600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:148697800-148699600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:148697800-148699600	Enhancers	NHEK	skin
38	chr4:148697800-148699600	Enhancers	NHLF	lung
39	chr4:148697800-148699800	Enhancers	HUVEC	blood vessel
40	chr4:148697800-148700400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:148697800-148701000	Enhancers	Ovary	ovary
42	chr4:148698000-148698800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr4:148698000-148699000	Enhancers	NHDF-Ad	bronchial
44	chr4:148698000-148699200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr4:148698000-148699600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr4:148698000-148699600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:148698000-148699600	Enhancers	HMEC	breast
48	chr4:148698000-148700200	Weak transcription	Esophagus	oesophagus
49	chr4:148698000-148701400	Weak transcription	Lung	lung
50	chr4:148698200-148699000	Weak transcription	Fetal Kidney	kidney

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