Variant report

Variant	esv1813736
Chromosome Location	chr15:92669468-92676435
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 322 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:322 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77064620	chr15:92669468-92669469	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111232668	chr15:92669500-92669501	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs377557787	chr15:92669503-92669504	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs369951235	chr15:92669511-92669512	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190325622	chr15:92669512-92669513	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201937713	chr15:92669521-92669522	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs370331765	chr15:92669540-92669541	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558436200	chr15:92669543-92669544	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs578148079	chr15:92669563-92669564	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs575616724	chr15:92669571-92669572	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs79913287	chr15:92669584-92669585	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556184091	chr15:92669597-92669598	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73540491	chr15:92669598-92669599	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs74530950	chr15:92669599-92669600	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs561741714	chr15:92669609-92669610	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs112906771	chr15:92669611-92669612	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146209129	chr15:92669625-92669626	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs540829749	chr15:92669632-92669633	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564411977	chr15:92669634-92669635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs182923938	chr15:92669673-92669674	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187734191	chr15:92669700-92669701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563327829	chr15:92669716-92669717	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs529375843	chr15:92669720-92669721	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76873593	chr15:92669741-92669742	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565795055	chr15:92669743-92669744	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs192695402	chr15:92669745-92669746	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551678493	chr15:92669769-92669770	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs2074887	chr15:92669785-92669786	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537327156	chr15:92669802-92669803	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs182748778	chr15:92669853-92669854	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs117261134	chr15:92669872-92669873	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs187715878	chr15:92669882-92669883	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs35866115	chr15:92669892-92669893	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs551131589	chr15:92669901-92669902	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs137918158	chr15:92669914-92669915	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs80007424	chr15:92669970-92669971	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs59123038	chr15:92669981-92669982	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs543291205	chr15:92669998-92669999	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563214797	chr15:92670004-92670005	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529259844	chr15:92670026-92670027	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367625822	chr15:92670034-92670035	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs548917928	chr15:92670055-92670056	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs112618571	chr15:92670067-92670068	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs528565278	chr15:92670091-92670092	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs551983513	chr15:92670099-92670100	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs192746965	chr15:92670145-92670146	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571724557	chr15:92670150-92670151	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs531103122	chr15:92670163-92670164	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372200907	chr15:92670198-92670199	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536730413	chr15:92670225-92670226	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:212 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92643800-92676000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr15:92645000-92679800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr15:92645200-92705600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr15:92648200-92692600	Weak transcription	NHLF	lung
5	chr15:92649000-92671400	Weak transcription	Colonic Mucosa	Colon
6	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr15:92657000-92690200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr15:92660600-92678600	Weak transcription	Thymus	Thymus
9	chr15:92661000-92670400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:92661000-92703600	Weak transcription	Small Intestine	intestine
11	chr15:92662200-92673400	Weak transcription	HMEC	breast
12	chr15:92662200-92673800	Weak transcription	NHEK	skin
13	chr15:92663000-92677200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr15:92663200-92670200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr15:92663200-92671000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr15:92663400-92672800	Strong transcription	Primary T helper cells PMA-I stimulated	--
17	chr15:92663400-92677600	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr15:92663400-92679200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr15:92663400-92679400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr15:92663600-92676200	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:92664000-92670000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:92664000-92707000	Weak transcription	Liver	Liver
23	chr15:92664000-92712000	Weak transcription	Psoas Muscle	Psoas
24	chr15:92664400-92675200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr15:92664600-92673400	Weak transcription	Fetal Lung	lung
26	chr15:92664600-92675400	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr15:92665200-92689000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr15:92665600-92671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:92665800-92669800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:92665800-92670000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr15:92665800-92670200	Weak transcription	Pancreas	Pancrea
32	chr15:92665800-92671200	Weak transcription	Gastric	stomach
33	chr15:92665800-92672800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:92665800-92673400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr15:92665800-92673400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr15:92665800-92676600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:92665800-92682400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:92665800-92686000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr15:92666000-92670200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr15:92666000-92672000	Weak transcription	Primary hematopoietic stem cells	blood
41	chr15:92666000-92685600	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:92666000-92704200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr15:92666400-92669800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr15:92666400-92670600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr15:92666400-92671800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr15:92666800-92669600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr15:92666800-92674000	Strong transcription	Esophagus	oesophagus
48	chr15:92667000-92674400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr15:92667000-92675400	Strong transcription	Aorta	Aorta
50	chr15:92667200-92679200	Strong transcription	Lung	lung

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