Variant report

Variant	rs62004114
Chromosome Location	chr15:40333355-40333356
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 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	MXI1	chr15:40332956-40333389	HepG2	liver:	n/a	n/a
3	MYBL2	chr15:40332956-40333409	HepG2	liver:	n/a	n/a
4	EP300	chr15:40332914-40333414	HepG2	liver:	n/a	chr15:40333014-40333028
5	FOXA1	chr15:40332905-40333390	HepG2	liver:	n/a	n/a
6	HNF4G	chr15:40333004-40333415	HepG2	liver:	n/a	n/a
7	NR2F2	chr15:40332827-40333579	HepG2	liver:	n/a	n/a
8	CEBPB	chr15:40333010-40333408	HepG2	liver:	n/a	n/a
9	NFIC	chr15:40332837-40333390	HepG2	liver:	n/a	n/a
10	MYBL2	chr15:40332886-40333407	HepG2	liver:	n/a	n/a
11	EP300	chr15:40332879-40333417	HepG2	liver:	n/a	chr15:40333014-40333028
12	ARID3A	chr15:40332896-40333525	HepG2	liver:	n/a	n/a
13	POLR2A	chr15:40332914-40333365	HepG2	liver:	n/a	n/a
14	NR2F2	chr15:40332880-40333414	HepG2	liver:	n/a	n/a
15	HNF4A	chr15:40332943-40333364	HepG2	liver:	n/a	chr15:40333264-40333279
16	FOXA1	chr15:40332823-40333455	HepG2	liver:	n/a	n/a
17	SP1	chr15:40332888-40333423	HepG2	liver:	n/a	n/a
18	FOXA1	chr15:40332803-40333402	HepG2	liver:	n/a	n/a

No data

(count:5 , 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	chr15:40333125..40335959-chr15:40396461..40399389,2	K562	blood:
5	chr15:40331030..40332953-chr15:40333015..40336331,4	K562	blood:

No data

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1010879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070250	0.87[EUR][1000 genomes]
rs17723133	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2412478	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28444847	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28736699	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28826672	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35781999	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3923235	0.88[EUR][1000 genomes]
rs4497657	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4924410	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924413	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4924417	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62004158	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7497289	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs749748	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs8026641	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9919974	0.98[AMR][1000 genomes];1.00[EUR][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	chr15:40332000-40333400	Enhancers	Primary T killer memory cells from peripheral blood	blood
3	chr15:40332000-40333600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:40332000-40336400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:40332000-40337000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:40332000-40337000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:40332000-40337000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:40332000-40337000	Weak transcription	Fetal Kidney	kidney
9	chr15:40332000-40337000	Weak transcription	Fetal Lung	lung
10	chr15:40332000-40337200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr15:40332000-40337200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:40332000-40337200	Weak transcription	Brain Germinal Matrix	brain
13	chr15:40332000-40339800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr15:40332400-40333400	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr15:40332400-40336600	Weak transcription	HSMMtube	muscle
16	chr15:40332400-40336600	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr15:40332400-40336800	Weak transcription	Primary B cells from cord blood	blood
18	chr15:40332400-40336800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:40332400-40336800	Weak transcription	Esophagus	oesophagus
20	chr15:40332400-40336800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:40332400-40337000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:40332400-40337000	Weak transcription	Fetal Brain Male	brain
23	chr15:40332400-40337000	Weak transcription	NH-A	brain
24	chr15:40332400-40337000	Weak transcription	Osteobl	bone
25	chr15:40332400-40337200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr15:40332400-40339400	Weak transcription	Gastric	stomach
27	chr15:40332400-40339400	Weak transcription	Right Atrium	heart
28	chr15:40332600-40333400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr15:40332600-40333400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr15:40332600-40333400	Enhancers	Left Ventricle	heart
31	chr15:40332600-40336400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:40332600-40336400	Weak transcription	Brain Substantia Nigra	brain
33	chr15:40332600-40336600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr15:40332600-40336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:40332600-40336800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr15:40332600-40336800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr15:40332600-40336800	Weak transcription	Fetal Stomach	stomach
38	chr15:40332600-40336800	Weak transcription	Hela-S3	cervix
39	chr15:40332600-40337000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr15:40332600-40337000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr15:40332600-40337000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:40332600-40337000	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr15:40332600-40337000	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr15:40332600-40337000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:40332600-40337000	Weak transcription	Brain Hippocampus Middle	brain
46	chr15:40332600-40337000	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:40332600-40337000	Weak transcription	HMEC	breast
48	chr15:40332600-40337000	Weak transcription	HUVEC	blood vessel
49	chr15:40332600-40337200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:40332600-40337800	Weak transcription	Small Intestine	intestine

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