Variant report

Variant	esv3344146
Chromosome Location	chr15:57472215-57472860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369000953	chr15:57472273-57472274	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149554480	chr15:57472315-57472316	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562408258	chr15:57472317-57472318	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs144248366	chr15:57472369-57472370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs531554864	chr15:57472384-57472385	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569506597	chr15:57472396-57472397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs77628848	chr15:57472435-57472436	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557919568	chr15:57472461-57472462	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs577987871	chr15:57472493-57472494	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs151189249	chr15:57472534-57472535	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540227858	chr15:57472549-57472550	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193166005	chr15:57472571-57472572	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574413842	chr15:57472605-57472606	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543339117	chr15:57472669-57472670	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs527578367	chr15:57472676-57472677	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs184993512	chr15:57472729-57472730	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs11858783	chr15:57472751-57472752	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs190035470	chr15:57472820-57472821	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146246803	chr15:57472849-57472850	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146044539	chr15:57472852-57472853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs66524710	chr15:57472853-57472854	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Gastrointestinal stromal cancer	16982739	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Basal cell lymphoma	17053054	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	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
Acute monocytic leukemia	16498392	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Acute promyelocytic leukemia	19109227	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57439400-57491600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr15:57444400-57485600	Weak transcription	Placenta	Placenta
3	chr15:57444400-57507400	Weak transcription	K562	blood
4	chr15:57444600-57490200	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr15:57444800-57484200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:57444800-57484200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:57445400-57478400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:57447000-57484600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr15:57448000-57483800	Weak transcription	Lung	lung
10	chr15:57450800-57491000	Weak transcription	Left Ventricle	heart
11	chr15:57451000-57477400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:57451000-57487800	Weak transcription	Psoas Muscle	Psoas
13	chr15:57451000-57490800	Weak transcription	NHEK	skin
14	chr15:57451200-57475000	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:57451200-57475400	Weak transcription	Adipose Nuclei	Adipose
16	chr15:57451200-57478600	Weak transcription	HMEC	breast
17	chr15:57451200-57484200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr15:57451200-57484200	Weak transcription	Esophagus	oesophagus
19	chr15:57451200-57490400	Weak transcription	Ovary	ovary
20	chr15:57451600-57491200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr15:57451800-57478400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:57452200-57481600	Weak transcription	Fetal Heart	heart
23	chr15:57452400-57475400	Weak transcription	Fetal Lung	lung
24	chr15:57452400-57490400	Weak transcription	Fetal Brain Female	brain
25	chr15:57453800-57485400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr15:57453800-57524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr15:57457200-57499400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr15:57457400-57478400	Weak transcription	Fetal Muscle Leg	muscle
29	chr15:57458200-57505200	Strong transcription	Fetal Thymus	thymus
30	chr15:57458800-57475000	Weak transcription	Osteobl	bone
31	chr15:57458800-57475600	Weak transcription	HUVEC	blood vessel
32	chr15:57459200-57488600	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr15:57459200-57492600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr15:57459800-57475600	Weak transcription	Fetal Intestine Large	intestine
35	chr15:57459800-57476200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:57459800-57476600	Weak transcription	Fetal Stomach	stomach
37	chr15:57459800-57477400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr15:57459800-57477800	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr15:57459800-57478400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:57459800-57490200	Weak transcription	HSMMtube	muscle
41	chr15:57460000-57484200	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr15:57460400-57481000	Weak transcription	Aorta	Aorta
43	chr15:57460400-57484000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:57460400-57486400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr15:57460600-57475600	Weak transcription	Fetal Intestine Small	intestine
46	chr15:57461000-57473600	Weak transcription	Liver	Liver
47	chr15:57461000-57475600	Weak transcription	HepG2	liver
48	chr15:57461000-57475800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr15:57461400-57484400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr15:57462200-57477400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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