Variant report

Variant	rs562580056
Chromosome Location	chr15:49449353-49449354
allele	C/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	HEY1	chr15:49449328-49449520	K562	blood:	n/a	n/a
2	IRF1	chr15:49449315-49449538	K562	blood:	n/a	chr15:49449435-49449449 chr15:49449438-49449455 chr15:49449444-49449461 chr15:49449441-49449455 chr15:49449445-49449456
3	IRF1	chr15:49449303-49449497	K562	blood:	n/a	chr15:49449435-49449449 chr15:49449438-49449455 chr15:49449444-49449461 chr15:49449441-49449455 chr15:49449445-49449456

No.	Distal block	Cell Line	Cell type
1	chr15:49443824..49452367-chr15:49460648..49465189,20	K562	blood:
2	chr15:49446083..49452367-chr15:49460693..49464702,19	K562	blood:
3	chr15:49424882..49426670-chr15:49449093..49451869,2	MCF-7	breast:
4	chr15:49446471..49449731-chr15:49460521..49465602,13	MCF-7	breast:
5	chr15:49446244..49450190-chr15:50645448..50647621,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF7-3	chr15:49448495-49450822	NR_036507

Variant related genes	Relation type
COPS2	TF binding region
ENSG00000244879	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000156958	Chromatin interaction
ENSG00000264210	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv974572	chr15:49448277-49450621	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:49445800-49450400	Active TSS	NHLF	lung
2	chr15:49446000-49449400	Active TSS	K562	blood
3	chr15:49446000-49449600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr15:49446000-49450000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:49446200-49449600	Active TSS	NHDF-Ad	bronchial
6	chr15:49446400-49449600	Active TSS	HMEC	breast
7	chr15:49446400-49450400	Active TSS	GM12878-XiMat	blood
8	chr15:49446600-49449400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr15:49446600-49449600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:49446600-49450000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:49446800-49449400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:49446800-49449400	Active TSS	Fetal Intestine Large	intestine
13	chr15:49446800-49449600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:49448200-49449400	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr15:49448400-49449400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr15:49448400-49449800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:49448400-49450000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:49448600-49449400	Flanking Active TSS	Liver	Liver
19	chr15:49448600-49449400	Active TSS	HepG2	liver
20	chr15:49448600-49449400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr15:49448800-49449400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr15:49448800-49449400	Flanking Active TSS	HUVEC	blood vessel
23	chr15:49448800-49449600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr15:49448800-49449600	Enhancers	Fetal Heart	heart
25	chr15:49448800-49450000	Flanking Active TSS	Dnd41	blood
26	chr15:49448800-49450200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:49448800-49450200	Enhancers	Colon Smooth Muscle	Colon
28	chr15:49448800-49450400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr15:49448800-49450400	Active TSS	Duodenum Mucosa	Duodenum
30	chr15:49448800-49456200	Weak transcription	Gastric	stomach
31	chr15:49448800-49461400	Weak transcription	Small Intestine	intestine
32	chr15:49448800-49461800	Weak transcription	Colonic Mucosa	Colon
33	chr15:49448800-49461800	Weak transcription	Stomach Mucosa	stomach
34	chr15:49448800-49462000	Weak transcription	Placenta	Placenta
35	chr15:49448800-49462000	Weak transcription	Left Ventricle	heart
36	chr15:49448800-49462000	Weak transcription	Lung	lung
37	chr15:49448800-49462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:49448800-49462200	Weak transcription	Ovary	ovary
39	chr15:49448800-49462200	Weak transcription	Pancreas	Pancrea
40	chr15:49448800-49462200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr15:49448800-49462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr15:49448800-49462400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:49448800-49462400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr15:49448800-49462400	Weak transcription	Spleen	Spleen
45	chr15:49449000-49449400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:49449000-49449400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr15:49449000-49449400	Enhancers	Brain Angular Gyrus	brain
48	chr15:49449000-49449400	Enhancers	Brain Cingulate Gyrus	brain
49	chr15:49449000-49449400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr15:49449000-49449400	Enhancers	Brain Substantia Nigra	brain

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