Variant report

Variant	esv3367749
Chromosome Location	chr15:34274947-34275448
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 68 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114442681	chr15:34274961-34274962	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560911790	chr15:34274979-34274980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs533697180	chr15:34274999-34275000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs67309493	chr15:34275000-34275001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs398118725	chr15:34275001-34275002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs58340239	chr15:34275013-34275014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11857602	chr15:34275021-34275022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs528082769	chr15:34275054-34275055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180801847	chr15:34275074-34275075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs183775450	chr15:34275078-34275079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532408432	chr15:34275081-34275082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550518732	chr15:34275122-34275123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs56928120	chr15:34275142-34275143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs397972283	chr15:34275144-34275145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569019474	chr15:34275154-34275155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11276059	chr15:34275184-34275185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs61547311	chr15:34275190-34275191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536377216	chr15:34275200-34275201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6495419	chr15:34275262-34275263	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs566569385	chr15:34275269-34275270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150920153	chr15:34275288-34275289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375541336	chr15:34275293-34275294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142651010	chr15:34275299-34275300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374213068	chr15:34275330-34275331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12594950	chr15:34275347-34275348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs112045057	chr15:34275349-34275350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs145391998	chr15:34275351-34275352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs145851379	chr15:34275353-34275354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144635315	chr15:34275355-34275356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs11633066	chr15:34275361-34275362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs577481496	chr15:34275362-34275363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11637596	chr15:34275363-34275364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112286325	chr15:34275366-34275367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11633070	chr15:34275373-34275374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs561757870	chr15:34275376-34275377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11637882	chr15:34275380-34275381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536612414	chr15:34275384-34275385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12916228	chr15:34275386-34275387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs375971834	chr15:34275388-34275389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12912120	chr15:34275393-34275394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs12910307	chr15:34275395-34275396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575082739	chr15:34275406-34275407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371298232	chr15:34275412-34275413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148035145	chr15:34275416-34275417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542784178	chr15:34275420-34275421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560975111	chr15:34275422-34275423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572929339	chr15:34275424-34275425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs575460510	chr15:34275433-34275434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539869646	chr15:34275434-34275435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189196375	chr15:34275448-34275449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Prader-willi syndrome	21504564	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute lymphoblastic leukemia	18458336	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:34236800-34277200	Weak transcription	Left Ventricle	heart
2	chr15:34238000-34282400	Weak transcription	Ovary	ovary
3	chr15:34261200-34277200	Weak transcription	Brain Anterior Caudate	brain
4	chr15:34263800-34277200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:34264400-34277000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr15:34264800-34281200	Weak transcription	GM12878-XiMat	blood
7	chr15:34265200-34299600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:34265400-34294200	Weak transcription	Fetal Stomach	stomach
9	chr15:34265400-34311800	Weak transcription	Liver	Liver
10	chr15:34269800-34275600	Weak transcription	Brain Angular Gyrus	brain
11	chr15:34270000-34276800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr15:34270200-34277400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:34271600-34277200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr15:34271600-34277400	Weak transcription	Pancreas	Pancrea
15	chr15:34273000-34277600	Weak transcription	NHEK	skin
16	chr15:34273200-34275800	Weak transcription	Brain Substantia Nigra	brain
17	chr15:34274000-34277000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr15:34274000-34277200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:34274000-34277400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr15:34274000-34277400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:34274200-34275800	Weak transcription	Aorta	Aorta
22	chr15:34274200-34277400	Weak transcription	NHLF	lung
23	chr15:34274400-34311000	Weak transcription	Primary B cells from cord blood	blood
24	chr15:34274600-34276800	Weak transcription	Placenta	Placenta
25	chr15:34274800-34275200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr15:34275200-34277000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr15:34275400-34293200	Weak transcription	Primary T cells from cord blood	blood

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