Variant report

Variant	rs298509
Chromosome Location	chr5:17316860-17316861
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:17247856..17249479-chr5:17315310..17317349,2	MCF-7	breast:
2	chr5:17315747..17318184-chr5:17334955..17337924,3	MCF-7	breast:
3	chr5:17216018..17220506-chr5:17315410..17318317,7	MCF-7	breast:
4	chr5:17301641..17309650-chr5:17311056..17318411,15	MCF-7	breast:
5	chr5:17216453..17223368-chr5:17315060..17319016,10	MCF-7	breast:
6	chr5:17315557..17317719-chr5:17358059..17359709,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185296	Chromatin interaction
ENSG00000215196	Chromatin interaction
ENSG00000176788	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs298564	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029959	chr5:17133214-17455995	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv461988	chr5:17296342-17484038	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv597313	chr5:17296342-17484038	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:17307000-17317000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr5:17307000-17320200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:17314400-17318000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr5:17314800-17317000	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr5:17314800-17317200	Enhancers	Primary hematopoietic stem cells	blood
6	chr5:17315000-17317400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:17315000-17318000	Enhancers	NHDF-Ad	bronchial
8	chr5:17315000-17318200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:17315000-17320800	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:17315200-17317600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:17315200-17318000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr5:17315200-17318000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:17315200-17318000	Enhancers	HMEC	breast
14	chr5:17315200-17318000	Enhancers	NHEK	skin
15	chr5:17315200-17318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:17315200-17318200	Enhancers	NHLF	lung
17	chr5:17315400-17317000	Weak transcription	HSMM	muscle
18	chr5:17315400-17317200	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr5:17315400-17317400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr5:17315400-17317800	Enhancers	Osteobl	bone
21	chr5:17315400-17318600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr5:17315600-17317000	Weak transcription	Brain Hippocampus Middle	brain
23	chr5:17315600-17318000	Enhancers	Adipose Nuclei	Adipose
24	chr5:17315600-17318400	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:17316000-17317000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:17316000-17317000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr5:17316000-17317000	Weak transcription	Fetal Lung	lung
28	chr5:17316000-17317000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr5:17316000-17317200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr5:17316000-17317200	Enhancers	Placenta	Placenta
31	chr5:17316000-17317200	Flanking Active TSS	GM12878-XiMat	blood
32	chr5:17316000-17317800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:17316000-17317800	Enhancers	NH-A	brain
34	chr5:17316000-17318000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:17316200-17317000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
36	chr5:17316200-17317000	Enhancers	Lung	lung
37	chr5:17316200-17317200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr5:17316200-17317400	Enhancers	Stomach Mucosa	stomach
39	chr5:17316200-17317400	Flanking Active TSS	A549	lung
40	chr5:17316200-17317600	Enhancers	Duodenum Mucosa	Duodenum
41	chr5:17316200-17317800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:17316200-17318000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr5:17316200-17318000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr5:17316200-17319000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr5:17316600-17317600	Enhancers	Liver	Liver
46	chr5:17316800-17317000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr5:17316800-17317000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:17316800-17317200	Enhancers	Ovary	ovary
49	chr5:17316800-17317400	Enhancers	Esophagus	oesophagus
50	chr5:17316800-17317400	Enhancers	Rectal Mucosa Donor 29	rectum

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