Variant report

Variant	esv3385147
Chromosome Location	chr15:56961260-56963358
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12911191	chr15:56961272-56961273	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556071636	chr15:56961349-56961350	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs12910442	chr15:56961352-56961353	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148691396	chr15:56961358-56961359	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs151251520	chr15:56961373-56961374	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62022912	chr15:56961435-56961436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145475408	chr15:56961482-56961483	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs147717624	chr15:56961497-56961498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs142498684	chr15:56961524-56961525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs528839821	chr15:56961546-56961547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537244164	chr15:56961548-56961549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183073593	chr15:56961550-56961551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551650203	chr15:56961663-56961664	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146777056	chr15:56961680-56961681	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs551505551	chr15:56961710-56961711	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187406672	chr15:56961801-56961802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527521564	chr15:56961815-56961816	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs546761496	chr15:56961853-56961854	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs372966478	chr15:56961882-56961883	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs566997191	chr15:56961884-56961885	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs191856356	chr15:56961893-56961894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs80333667	chr15:56961905-56961906	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569528552	chr15:56961996-56961997	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567066142	chr15:56962020-56962021	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201618563	chr15:56962069-56962070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376972662	chr15:56962070-56962071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs71113014	chr15:56962071-56962072	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs72076005	chr15:56962082-56962083	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367548376	chr15:56962084-56962085	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28515859	chr15:56962085-56962086	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371784062	chr15:56962086-56962087	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs12915071	chr15:56962092-56962093	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34476240	chr15:56962095-56962096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11338741	chr15:56962100-56962101	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs67216683	chr15:56962123-56962124	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs35943419	chr15:56962124-56962125	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs55748657	chr15:56962135-56962136	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs56088122	chr15:56962136-56962137	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71209359	chr15:56962147-56962148	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35233316	chr15:56962148-56962149	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377078980	chr15:56962149-56962150	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs71441448	chr15:56962154-56962155	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56353833	chr15:56962158-56962159	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs369792597	chr15:56962160-56962161	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs79821289	chr15:56962161-56962162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs55751348	chr15:56962169-56962170	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56174191	chr15:56962173-56962174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34006468	chr15:56962182-56962183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs56247478	chr15:56962183-56962184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199694074	chr15:56962201-56962202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:59)

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
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
Gastric adenocarcinoma	19115996	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Williams Syndrome	20824207	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56916600-56990800	Weak transcription	Pancreas	Pancrea
2	chr15:56917800-56990600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:56917800-56990600	Weak transcription	NHLF	lung
4	chr15:56919800-57016600	Weak transcription	Small Intestine	intestine
5	chr15:56924000-56990600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:56924000-56990800	Weak transcription	NHEK	skin
7	chr15:56928400-56996800	Weak transcription	Gastric	stomach
8	chr15:56937400-57000200	Weak transcription	Colonic Mucosa	Colon
9	chr15:56938600-56968200	Weak transcription	HMEC	breast
10	chr15:56939200-56990800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:56939400-56986000	Weak transcription	Brain Substantia Nigra	brain
12	chr15:56944600-56964600	Weak transcription	K562	blood
13	chr15:56944800-56962800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:56945200-56963200	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr15:56945800-56963000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:56945800-56990800	Weak transcription	Fetal Brain Male	brain
17	chr15:56946000-56990800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr15:56946200-56971000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr15:56946200-56990800	Weak transcription	Right Ventricle	heart
20	chr15:56948200-56961400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:56950200-56969200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr15:56950400-56965000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr15:56950600-56967200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:56953200-56961600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:56954000-56968400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:56954200-56965200	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr15:56954800-56969400	Strong transcription	Fetal Thymus	thymus
28	chr15:56955000-56961400	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr15:56955200-56962200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr15:56955800-56970200	Weak transcription	Psoas Muscle	Psoas
31	chr15:56955800-56990600	Weak transcription	Esophagus	oesophagus
32	chr15:56956000-56973400	Weak transcription	Aorta	Aorta
33	chr15:56957000-56961400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr15:56957400-56967800	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:56957400-56968000	Weak transcription	Fetal Heart	heart
36	chr15:56957400-56969000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:56957400-56969200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr15:56957400-56975600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr15:56958000-56990200	Weak transcription	A549	lung
40	chr15:56958200-56968000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:56958200-56990200	Weak transcription	Fetal Muscle Leg	muscle
42	chr15:56958400-56962400	Weak transcription	Left Ventricle	heart
43	chr15:56958400-56972000	Weak transcription	Ovary	ovary
44	chr15:56958400-56990600	Weak transcription	Lung	lung
45	chr15:56958400-56990800	Weak transcription	Brain Germinal Matrix	brain
46	chr15:56958400-57019200	Weak transcription	Fetal Intestine Small	intestine
47	chr15:56958600-56962600	Weak transcription	Fetal Lung	lung
48	chr15:56958600-56967800	Weak transcription	Brain Hippocampus Middle	brain
49	chr15:56958600-56968200	Weak transcription	HSMMtube	muscle
50	chr15:56958600-56970200	Weak transcription	Fetal Stomach	stomach

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