Variant report

Variant	nsv976937
Chromosome Location	chr15:55482965-55483465
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:55482890..55486340-chr15:55487631..55490505,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137876	chromatin interactions

Extended variants
information (count: 19 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs74018309	chr15:55483062-55483063	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569444971	chr15:55483077-55483078	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs3759862	chr15:55483104-55483105	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs17850526	chr15:55483177-55483178	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs17851390	chr15:55483185-55483186	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200616324	chr15:55483202-55483203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs17851201	chr15:55483210-55483211	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370157846	chr15:55483211-55483212	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145555296	chr15:55483220-55483221	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs374949655	chr15:55483254-55483255	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs377550705	chr15:55483280-55483281	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs377056955	chr15:55483321-55483322	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182895303	chr15:55483327-55483328	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs571271472	chr15:55483329-55483330	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533918063	chr15:55483349-55483350	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs554162252	chr15:55483355-55483356	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566649188	chr15:55483385-55483386	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs535779503	chr15:55483412-55483413	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs555229427	chr15:55483417-55483418	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22032731	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cancer	21129771	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495309	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:134 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55455800-55487200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:55462600-55488600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:55464800-55488200	Weak transcription	Lung	lung
4	chr15:55466800-55486800	Weak transcription	Psoas Muscle	Psoas
5	chr15:55468800-55487000	Weak transcription	Gastric	stomach
6	chr15:55469200-55484800	Strong transcription	Liver	Liver
7	chr15:55469200-55485000	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr15:55469400-55485200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:55469600-55485000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr15:55469600-55485200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr15:55469600-55486000	Strong transcription	Primary B cells from cord blood	blood
12	chr15:55469800-55484800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr15:55469800-55485000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:55469800-55486400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:55469800-55486600	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr15:55470000-55484800	Strong transcription	Primary hematopoietic stem cells	blood
17	chr15:55470000-55484800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:55470200-55484000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:55470200-55486600	Weak transcription	Small Intestine	intestine
20	chr15:55470400-55485000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:55470400-55485200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:55470400-55486400	Strong transcription	Primary B cells from peripheral blood	blood
23	chr15:55470400-55486400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:55470800-55485800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:55471000-55484800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr15:55471000-55485000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr15:55471000-55486000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:55471000-55486200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:55471000-55487000	Weak transcription	Pancreas	Pancrea
30	chr15:55471400-55485800	Weak transcription	Stomach Mucosa	stomach
31	chr15:55471600-55486800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr15:55472000-55484800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr15:55472000-55485000	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr15:55472000-55486200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr15:55472200-55488000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr15:55472400-55488400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr15:55472600-55488400	Weak transcription	Esophagus	oesophagus
38	chr15:55473000-55487000	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr15:55473000-55487400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:55473000-55487600	Weak transcription	Aorta	Aorta
41	chr15:55473600-55486800	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr15:55474200-55486200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:55475000-55487400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr15:55475200-55484000	Weak transcription	NHLF	lung
45	chr15:55475800-55484000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr15:55476000-55483800	Weak transcription	HSMMtube	muscle
47	chr15:55476400-55483400	Weak transcription	Brain Hippocampus Middle	brain
48	chr15:55476600-55485600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr15:55477000-55484000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr15:55477200-55483400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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