Variant report

Variant	rs73133301
Chromosome Location	chr5:92908006-92908007
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	MAX	chr5:92907619-92908094	HepG2	liver:	n/a	chr5:92907848-92907855 chr5:92907847-92907856 chr5:92907846-92907857 chr5:92907847-92907857 chr5:92907846-92907857 chr5:92907846-92907857 chr5:92907847-92907856 chr5:92907845-92907858 chr5:92907846-92907856
2	MXI1	chr5:92907732-92908245	H1-hESC	embryonic stem cell:	n/a	chr5:92907846-92907855
3	MAX	chr5:92907580-92908396	H1-hESC	embryonic stem cell:	n/a	chr5:92907848-92907855 chr5:92907847-92907856 chr5:92907846-92907857 chr5:92907847-92907857 chr5:92907846-92907857 chr5:92907846-92907857 chr5:92907847-92907856 chr5:92907845-92907858 chr5:92907846-92907856
4	POLR2A	chr5:92907188-92909449	H1-neurons	neurons:	n/a	n/a
5	MAX	chr5:92907578-92908178	HepG2	liver:	n/a	chr5:92907848-92907855 chr5:92907847-92907856 chr5:92907846-92907857 chr5:92907847-92907857 chr5:92907846-92907857 chr5:92907846-92907857 chr5:92907847-92907856 chr5:92907845-92907858 chr5:92907846-92907856
6	POLR2A	chr5:92907426-92908042	H1-neurons	neurons:	n/a	n/a
7	USF1	chr5:92907653-92908172	H1-hESC	embryonic stem cell:	n/a	chr5:92907771-92907787
8	MYC	chr5:92907983-92908037	H1-hESC	embryonic stem cell:	n/a	n/a
9	SIN3A	chr5:92907492-92909005	H1-hESC	embryonic stem cell:	n/a	chr5:92907943-92907952
10	CTBP2	chr5:92907604-92910294	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr5:92907689-92908018	H1-hESC	embryonic stem cell:	n/a	chr5:92907848-92907855 chr5:92907847-92907856 chr5:92907846-92907857 chr5:92907847-92907857 chr5:92907846-92907857 chr5:92907846-92907857 chr5:92907847-92907856 chr5:92907845-92907858 chr5:92907846-92907856
12	SUZ12	chr5:92906886-92910078	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr5:92907629-92908208	H1-hESC	embryonic stem cell:	n/a	chr5:92907899-92907908 chr5:92907986-92907998
14	MAX	chr5:92907556-92908977	H1-hESC	embryonic stem cell:	n/a	chr5:92907848-92907855 chr5:92907847-92907856 chr5:92907846-92907857 chr5:92908748-92908758 chr5:92907847-92907857 chr5:92907846-92907857 chr5:92907846-92907857 chr5:92907847-92907856 chr5:92907845-92907858 chr5:92907846-92907856
15	E2F6	chr5:92905416-92908330	H1-hESC	embryonic stem cell:	n/a	chr5:92907262-92907274 chr5:92907899-92907908 chr5:92907986-92907998
16	SUZ12	chr5:92906819-92911054	NT2-D1	testis:	n/a	n/a

Variant related genes	Relation type
NR2F1-AS1	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11135388	0.86[EUR][1000 genomes]
rs11951859	0.83[EUR][1000 genomes]
rs11952115	0.89[EUR][1000 genomes]
rs11952600	0.85[EUR][1000 genomes]
rs11960608	0.89[EUR][1000 genomes]
rs12186735	0.93[ASN][1000 genomes]
rs12187239	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12188716	0.93[ASN][1000 genomes]
rs12188845	0.85[EUR][1000 genomes]
rs12188905	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1370977	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1457101	0.86[EUR][1000 genomes]
rs17082127	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17082129	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083145	0.83[EUR][1000 genomes]
rs17083155	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17083181	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17083191	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083194	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083198	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083200	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083213	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17083228	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17370695	0.93[ASN][1000 genomes]
rs1824153	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1844343	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2083227	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2279473	0.93[ASN][1000 genomes]
rs2344387	0.85[EUR][1000 genomes]
rs3776601	0.93[ASN][1000 genomes]
rs55861967	0.83[EUR][1000 genomes]
rs57165666	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57690257	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59360932	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61324921	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61352323	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6556823	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6556824	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6866771	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6879816	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880843	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6889857	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133214	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133217	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133226	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73133228	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133239	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73133251	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133254	0.83[EUR][1000 genomes]
rs73133258	0.85[EUR][1000 genomes]
rs73133261	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133265	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133275	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133278	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133280	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133282	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133283	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133287	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133289	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73133292	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73135313	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73135320	0.93[ASN][1000 genomes]
rs73135321	0.93[ASN][1000 genomes]
rs73772907	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7712899	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7715034	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7727107	0.85[EUR][1000 genomes];1.00[ASN][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	nsv1022355	chr5:92846496-92911797	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
2	nsv537807	chr5:92846496-92911797	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	n/a
3	esv3451945	chr5:92858750-93024740	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv830404	chr5:92868336-93048257	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	esv1819334	chr5:92892591-92956733	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv882383	chr5:92895401-92928346	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv823130	chr5:92896346-92966016	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv4918	chr5:92898426-92943359	Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv823132	chr5:92898512-92969668	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92889600-92909800	Weak transcription	Ovary	ovary
2	chr5:92900600-92908200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:92900800-92914400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr5:92905400-92910200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:92905600-92908800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr5:92905600-92908800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:92905600-92909400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
8	chr5:92905600-92909600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:92905600-92909600	ZNF genes & repeats	Placenta	Placenta
10	chr5:92905800-92909600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:92906000-92909000	Bivalent Enhancer	Spleen	Spleen
12	chr5:92906000-92909200	Enhancers	Pancreas	Pancrea
13	chr5:92906000-92911200	Bivalent Enhancer	Fetal Brain Male	brain
14	chr5:92906400-92909000	Bivalent Enhancer	Liver	Liver
15	chr5:92906600-92908600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:92906600-92909000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr5:92906800-92908200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
18	chr5:92906800-92908200	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:92906800-92908600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
20	chr5:92906800-92908800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr5:92906800-92909000	Bivalent Enhancer	Fetal Thymus	thymus
22	chr5:92907000-92908400	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
23	chr5:92907000-92908400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
24	chr5:92907000-92908400	Bivalent Enhancer	Fetal Heart	heart
25	chr5:92907000-92908400	Enhancers	Gastric	stomach
26	chr5:92907000-92908600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:92907000-92908600	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr5:92907000-92908600	Bivalent Enhancer	Fetal Lung	lung
29	chr5:92907000-92909000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
30	chr5:92907000-92909400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
31	chr5:92907200-92908200	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr5:92907200-92908200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
33	chr5:92907200-92908800	Bivalent Enhancer	Fetal Intestine Small	intestine
34	chr5:92907400-92908200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr5:92907400-92908200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:92907400-92909000	Flanking Active TSS	Adipose Nuclei	Adipose
37	chr5:92907600-92908200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
38	chr5:92907600-92908400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr5:92907600-92908400	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
40	chr5:92907600-92908400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr5:92907600-92908600	ZNF genes & repeats	NHLF	lung
42	chr5:92907600-92908800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:92907600-92908800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:92907600-92909000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:92907600-92909000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:92907600-92909000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:92907600-92909200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
48	chr5:92907600-92909200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
49	chr5:92907600-92909200	Active TSS	Fetal Kidney	kidney
50	chr5:92907600-92909200	Flanking Active TSS	HMEC	breast

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