Variant report

Variant	rs4924409
Chromosome Location	chr15:40333050-40333051
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr15:40332802-40333355	HepG2	liver:	n/a	n/a
2	EP300	chr15:40333034-40333335	HepG2	liver:	n/a	n/a
3	MXI1	chr15:40332956-40333389	HepG2	liver:	n/a	n/a
4	RCOR1	chr15:40332915-40333273	HepG2	liver:	n/a	n/a
5	MYBL2	chr15:40332956-40333409	HepG2	liver:	n/a	n/a
6	POLR2A	chr15:40332232-40333243	HepG2	liver:	n/a	n/a
7	TBP	chr15:40332946-40333207	HepG2	liver:	n/a	n/a
8	HEY1	chr15:40332718-40333271	HepG2	liver:	n/a	n/a
9	EP300	chr15:40332914-40333414	HepG2	liver:	n/a	chr15:40333014-40333028
10	RXRA	chr15:40332914-40333343	HepG2	liver:	n/a	n/a
11	FOXA1	chr15:40332905-40333390	HepG2	liver:	n/a	n/a
12	HNF4G	chr15:40333004-40333415	HepG2	liver:	n/a	n/a
13	NR2F2	chr15:40332827-40333579	HepG2	liver:	n/a	n/a
14	BHLHE40	chr15:40333013-40333308	HepG2	liver:	n/a	n/a
15	CEBPB	chr15:40333010-40333408	HepG2	liver:	n/a	n/a
16	NFIC	chr15:40332837-40333390	HepG2	liver:	n/a	n/a
17	CTCF	chr15:40332900-40333050	NHDF-neo	bronchial:	n/a	n/a
18	RXRA	chr15:40332808-40333314	HepG2	liver:	n/a	n/a
19	MYBL2	chr15:40332886-40333407	HepG2	liver:	n/a	n/a
20	EP300	chr15:40332879-40333417	HepG2	liver:	n/a	chr15:40333014-40333028
21	ARID3A	chr15:40332896-40333525	HepG2	liver:	n/a	n/a
22	MAZ	chr15:40332913-40333330	HepG2	liver:	n/a	n/a
23	POLR2A	chr15:40332914-40333365	HepG2	liver:	n/a	n/a
24	NR2F2	chr15:40332880-40333414	HepG2	liver:	n/a	n/a
25	HNF4A	chr15:40332943-40333364	HepG2	liver:	n/a	chr15:40333264-40333279
26	FOXA1	chr15:40332823-40333455	HepG2	liver:	n/a	n/a
27	SP1	chr15:40332888-40333423	HepG2	liver:	n/a	n/a
28	HNF4A	chr15:40333003-40333349	HepG2	liver:	n/a	chr15:40333264-40333279
29	FOXA2	chr15:40332938-40333346	HepG2	liver:	n/a	n/a
30	FOXA1	chr15:40332803-40333402	HepG2	liver:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:40331646..40335428-chr15:40336590..40339827,4	K562	blood:
2	chr15:40332333..40335315-chr15:40395513..40398387,3	MCF-7	breast:
3	chr15:40332774..40337127-chr15:40449212..40452234,6	K562	blood:
4	chr15:40331030..40332953-chr15:40333015..40336331,4	K562	blood:

No data

Variant related genes	Relation type
SRP14	TF binding region
ENSG00000248508	Chromatin interaction
ENSG00000140319	Chromatin interaction
ENSG00000104081	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2412475	0.85[ASN][1000 genomes]
rs2898986	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530816	chr15:40003136-40586792	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv428635	chr15:40274500-40436293	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40331800-40339400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr15:40332000-40333200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:40332000-40333200	Enhancers	Primary B cells from peripheral blood	blood
4	chr15:40332000-40333200	Enhancers	Primary T cells fromperipheralblood	blood
5	chr15:40332000-40333200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr15:40332000-40333200	Enhancers	Brain Anterior Caudate	brain
7	chr15:40332000-40333200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr15:40332000-40333200	Enhancers	Fetal Intestine Small	intestine
9	chr15:40332000-40333200	Enhancers	Placenta	Placenta
10	chr15:40332000-40333200	Enhancers	Right Ventricle	heart
11	chr15:40332000-40333400	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:40332000-40333600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr15:40332000-40336400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:40332000-40337000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr15:40332000-40337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr15:40332000-40337000	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr15:40332000-40337000	Weak transcription	Fetal Kidney	kidney
18	chr15:40332000-40337000	Weak transcription	Fetal Lung	lung
19	chr15:40332000-40337200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr15:40332000-40337200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr15:40332000-40337200	Weak transcription	Brain Germinal Matrix	brain
22	chr15:40332000-40339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr15:40332200-40333200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:40332400-40333200	Enhancers	Fetal Intestine Large	intestine
25	chr15:40332400-40333200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr15:40332400-40333400	Enhancers	Primary T helper cells fromperipheralblood	blood
27	chr15:40332400-40336600	Weak transcription	HSMMtube	muscle
28	chr15:40332400-40336600	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr15:40332400-40336800	Weak transcription	Primary B cells from cord blood	blood
30	chr15:40332400-40336800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:40332400-40336800	Weak transcription	Esophagus	oesophagus
32	chr15:40332400-40336800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr15:40332400-40337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr15:40332400-40337000	Weak transcription	Fetal Brain Male	brain
35	chr15:40332400-40337000	Weak transcription	NH-A	brain
36	chr15:40332400-40337000	Weak transcription	Osteobl	bone
37	chr15:40332400-40337200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr15:40332400-40339400	Weak transcription	Gastric	stomach
39	chr15:40332400-40339400	Weak transcription	Right Atrium	heart
40	chr15:40332600-40333200	Enhancers	Primary T cells from cord blood	blood
41	chr15:40332600-40333200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr15:40332600-40333200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr15:40332600-40333200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr15:40332600-40333200	Enhancers	Fetal Thymus	thymus
45	chr15:40332600-40333200	Enhancers	Thymus	Thymus
46	chr15:40332600-40333200	Flanking Active TSS	HepG2	liver
47	chr15:40332600-40333400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr15:40332600-40333400	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr15:40332600-40333400	Enhancers	Left Ventricle	heart
50	chr15:40332600-40336400	Weak transcription	Primary hematopoietic stem cells	blood

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