Variant report

Variant	esv3584923
Chromosome Location	chr15:92653655-92663201
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92656493..92660596-chr15:92660615..92664122,4	K562	blood:
2	chr15:92656493..92660596-chr15:92660615..92664122,4	K562	blood:
3	chr15:92657916..92660596-chr15:92660615..92664103,3	K562	blood:
4	chr15:92643862..92645656-chr15:92652617..92654137,2	MCF-7	breast:
5	chr15:92657916..92660596-chr15:92660615..92664103,3	K562	blood:

Extended variants
information (count: 398 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:398 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536701618	chr15:92653740-92653741	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553334412	chr15:92653743-92653744	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567043784	chr15:92653750-92653751	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538996065	chr15:92653780-92653781	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562529744	chr15:92653781-92653782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575188483	chr15:92653791-92653792	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs117904467	chr15:92653794-92653795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs556952955	chr15:92653813-92653814	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150575294	chr15:92653904-92653905	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542697520	chr15:92653911-92653912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs11322700	chr15:92653950-92653951	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs398078400	chr15:92653951-92653952	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs200390469	chr15:92653953-92653954	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559319798	chr15:92653958-92653959	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528269525	chr15:92653959-92653960	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528285005	chr15:92653972-92653973	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544775244	chr15:92654038-92654039	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140483352	chr15:92654047-92654048	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs117140380	chr15:92654054-92654055	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs374204761	chr15:92654094-92654095	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs368064435	chr15:92654100-92654101	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200734687	chr15:92654102-92654103	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs202046235	chr15:92654103-92654104	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs199543622	chr15:92654104-92654105	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs200428789	chr15:92654105-92654106	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9707930	chr15:92654106-92654107	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs3030617	chr15:92654109-92654110	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144342411	chr15:92654126-92654127	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530173972	chr15:92654129-92654130	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs147802658	chr15:92654137-92654138	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564994370	chr15:92654172-92654173	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532211447	chr15:92654177-92654178	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371664655	chr15:92654227-92654228	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs141203705	chr15:92654246-92654247	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs539238441	chr15:92654273-92654274	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559156088	chr15:92654308-92654309	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs538536997	chr15:92654330-92654331	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs557036610	chr15:92654378-92654379	Weak transcription Enhancers Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554622727	chr15:92654427-92654428	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs111598137	chr15:92654500-92654501	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553053201	chr15:92654513-92654514	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74030483	chr15:92654550-92654551	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs190125942	chr15:92654587-92654588	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs564690912	chr15:92654595-92654596	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530757778	chr15:92654601-92654602	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs544089629	chr15:92654641-92654642	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372519388	chr15:92654642-92654643	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs28662132	chr15:92654651-92654652	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs36054777	chr15:92654682-92654683	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs207960	chr15:92654719-92654720	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:371 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92639400-92661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr15:92641000-92657200	Weak transcription	Pancreas	Pancrea
3	chr15:92641000-92663600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr15:92641400-92660000	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr15:92641400-92660400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr15:92641400-92660400	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr15:92641600-92665000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr15:92642400-92665000	Weak transcription	Gastric	stomach
9	chr15:92642600-92656600	Weak transcription	Aorta	Aorta
10	chr15:92643000-92658000	Weak transcription	Liver	Liver
11	chr15:92643800-92676000	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:92645000-92679800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr15:92645200-92656800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:92645200-92705600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:92645400-92655800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:92645400-92659800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr15:92645400-92663400	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr15:92645400-92665000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr15:92645400-92665000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr15:92645600-92654600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr15:92645800-92654400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr15:92646000-92656200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr15:92646200-92654000	Weak transcription	Brain Angular Gyrus	brain
24	chr15:92646200-92658000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:92647600-92658600	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr15:92647600-92663600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr15:92647800-92656000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:92647800-92659200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:92648000-92655800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:92648200-92692600	Weak transcription	NHLF	lung
31	chr15:92648600-92655800	Enhancers	Fetal Heart	heart
32	chr15:92648600-92660600	Weak transcription	HMEC	breast
33	chr15:92649000-92664000	Weak transcription	Ovary	ovary
34	chr15:92649000-92671400	Weak transcription	Colonic Mucosa	Colon
35	chr15:92649200-92710800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr15:92649400-92655800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:92649600-92654400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:92649600-92657600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr15:92649600-92665000	Weak transcription	Esophagus	oesophagus
40	chr15:92650200-92654000	Weak transcription	Lung	lung
41	chr15:92650800-92654400	Enhancers	Left Ventricle	heart
42	chr15:92650800-92660400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:92651000-92656400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:92651600-92655800	Enhancers	Brain Hippocampus Middle	brain
45	chr15:92651800-92654400	Enhancers	Right Ventricle	heart
46	chr15:92651800-92655800	Enhancers	Fetal Brain Female	brain
47	chr15:92652200-92656800	Enhancers	Brain Substantia Nigra	brain
48	chr15:92652400-92656000	Enhancers	Right Atrium	heart
49	chr15:92652400-92664200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr15:92652600-92655800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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