Variant report

Variant	rs4333182
Chromosome Location	chr4:15684712-15684713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr4:15682349-15684777	MCF10A-Er-Src	breast:	n/a	chr4:15683240-15683251 chr4:15682723-15682732
2	POLR2A	chr4:15682612-15684712	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr4:15682658-15684957	MCF10A-Er-Src	breast:	n/a	n/a
4	CEBPB	chr4:15684549-15684918	K562	blood:	n/a	n/a
5	CHD1	chr4:15682231-15684731	H1-hESC	embryonic stem cell:	n/a	n/a
6	MYC	chr4:15683866-15684980	MCF10A-Er-Src	breast:	n/a	n/a
7	YY1	chr4:15684337-15684772	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr4:15682912-15686646	K562	blood:	n/a	n/a
9	MYC	chr4:15684198-15685077	MCF10A-Er-Src	breast:	n/a	n/a
10	YY1	chr4:15684398-15684760	SK-N-SH_RA	brain:	n/a	n/a
11	ARID3A	chr4:15684552-15684990	K562	blood:	n/a	n/a
12	REST	chr4:15682697-15684804	H1-neurons	neurons:	n/a	n/a
13	POLR2A	chr4:15682835-15685064	IMR90	lung:	n/a	n/a
14	POLR2A	chr4:15682445-15684950	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:15681678..15685124-chr4:15685309..15687808,5	MCF-7	breast:
2	chr4:15682398..15684850-chr8:101964333..101966529,2	MCF-7	breast:
3	chr4:15651703..15660794-chr4:15677607..15686235,25	K562	blood:
4	chr4:15652080..15658606-chr4:15677363..15685579,17	MCF-7	breast:
5	chr4:15655595..15658742-chr4:15680185..15687360,10	MCF-7	breast:
6	chr4:15650206..15660298-chr4:15677140..15687517,25	K562	blood:
7	chr4:15479910..15482087-chr4:15683434..15685124,3	MCF-7	breast:

No data

Variant related genes	Relation type
FAM200B	TF binding region
FBXL5	TF binding region
ENSG00000237765	Chromatin interaction
ENSG00000118564	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000048342	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10008376	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10008975	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10214	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12499412	0.89[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12500770	0.90[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12644655	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12651550	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13120905	0.89[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs13147590	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1789	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4270584	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4358397	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4453929	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4470622	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4557256	0.92[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4616746	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4631041	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4698402	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4698404	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4698407	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4698409	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6414765	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6414767	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6414768	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6449161	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6850422	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7438356	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7662032	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7685083	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7687003	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7696127	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8180240	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs9997068	0.91[AFR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3448986	chr4:14928802-15805558	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2757923	chr4:15444617-15749520	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv2759227	chr4:15444617-15749520	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv428439	chr4:15556961-15749520	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1012988	chr4:15597510-16091527	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	nsv521183	chr4:15610771-15692136	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4333182	FBXL5	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:15679400-15685400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr4:15679400-15685600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:15679600-15685400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr4:15679600-15685600	Active TSS	A549	lung
5	chr4:15680200-15685000	Active TSS	K562	blood
6	chr4:15680800-15684800	Active TSS	H1 Cell Line	embryonic stem cell
7	chr4:15681000-15685400	Active TSS	NH-A	brain
8	chr4:15681400-15684800	Active TSS	Thymus	Thymus
9	chr4:15681600-15684800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:15681600-15684800	Active TSS	Fetal Thymus	thymus
11	chr4:15681600-15685400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr4:15681800-15685600	Active TSS	NHLF	lung
13	chr4:15681800-15686200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr4:15682000-15685200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:15682000-15685200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr4:15682000-15685400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr4:15682000-15685600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:15682000-15685600	Active TSS	HMEC	breast
19	chr4:15682200-15684800	Active TSS	Fetal Intestine Small	intestine
20	chr4:15682400-15685000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:15682600-15685000	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr4:15682600-15685200	Flanking Active TSS	Primary B cells from cord blood	blood
23	chr4:15682800-15685000	Active TSS	Psoas Muscle	Psoas
24	chr4:15683000-15684800	Active TSS	Aorta	Aorta
25	chr4:15683400-15684800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr4:15683400-15684800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr4:15683600-15684800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
28	chr4:15683600-15684800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
29	chr4:15683600-15685000	Active TSS	Right Atrium	heart
30	chr4:15683600-15685200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:15683600-15687600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr4:15683800-15684800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr4:15683800-15684800	Flanking Active TSS	Hela-S3	cervix
34	chr4:15683800-15685000	Active TSS	HepG2	liver
35	chr4:15683800-15686800	Weak transcription	Gastric	stomach
36	chr4:15684000-15684800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr4:15684000-15684800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr4:15684000-15685000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr4:15684000-15685000	Flanking Active TSS	Dnd41	blood
40	chr4:15684000-15686200	Weak transcription	Esophagus	oesophagus
41	chr4:15684000-15686200	Weak transcription	Spleen	Spleen
42	chr4:15684000-15688000	Weak transcription	Pancreas	Pancrea
43	chr4:15684000-15691000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr4:15684000-15692400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr4:15684000-15697000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:15684000-15704400	Weak transcription	Left Ventricle	heart
47	chr4:15684200-15684800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr4:15684200-15684800	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:15684200-15684800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr4:15684200-15684800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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