Variant report

Variant	rs548022988
Chromosome Location	chr8:117858832-117858833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:117855246..117857317-chr8:117857699..117859236,2	MCF-7	breast:
2	chr8:117847223..117849711-chr8:117856512..117859116,2	MCF-7	breast:
3	chr8:117853348..117856014-chr8:117857565..117859275,2	MCF-7	breast:
4	chr8:117848684..117853710-chr8:117854068..117860611,8	K562	blood:
5	chr8:117857607..117860460-chr8:117874420..117876566,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv530386	chr8:117509968-118391406	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv831434	chr8:117784467-117977825	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv982142	chr8:117857769-117860673	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:117840800-117859400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:117848400-117863800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr8:117850000-117859600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:117852000-117859000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr8:117852400-117859200	Weak transcription	Fetal Heart	heart
6	chr8:117852400-117877000	Weak transcription	Fetal Intestine Small	intestine
7	chr8:117852600-117859200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:117852800-117860800	Weak transcription	Small Intestine	intestine
9	chr8:117853000-117881400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:117853400-117859000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:117853400-117859000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr8:117853400-117860000	Weak transcription	Esophagus	oesophagus
13	chr8:117854400-117859600	Weak transcription	Aorta	Aorta
14	chr8:117854800-117859200	Weak transcription	Brain Substantia Nigra	brain
15	chr8:117854800-117859600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr8:117854800-117863800	Weak transcription	Gastric	stomach
17	chr8:117854800-117875000	Strong transcription	Dnd41	blood
18	chr8:117855000-117859200	Weak transcription	Brain Angular Gyrus	brain
19	chr8:117855000-117859800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr8:117855000-117859800	Weak transcription	Spleen	Spleen
21	chr8:117855000-117860000	Weak transcription	Pancreas	Pancrea
22	chr8:117855200-117861600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:117855200-117870400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr8:117855400-117872800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr8:117855800-117859000	Weak transcription	K562	blood
26	chr8:117856000-117860400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:117856000-117870600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr8:117856000-117872800	Strong transcription	Fetal Intestine Large	intestine
29	chr8:117856000-117873000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:117856000-117874000	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:117856200-117859000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr8:117856200-117859000	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr8:117856200-117859200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:117856200-117860000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:117856200-117860600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr8:117856200-117869400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr8:117856200-117872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:117856200-117873800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr8:117856200-117877000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:117856400-117860000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr8:117856400-117862000	Strong transcription	GM12878-XiMat	blood
42	chr8:117856400-117873000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:117856400-117873000	Strong transcription	Liver	Liver
44	chr8:117856400-117875200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr8:117856400-117878400	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr8:117856400-117879000	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr8:117856400-117882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:117856600-117859000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr8:117856600-117859000	Weak transcription	Psoas Muscle	Psoas
50	chr8:117856600-117859200	Weak transcription	Brain Germinal Matrix	brain

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