Variant report

Variant	esv3388606
Chromosome Location	chr15:58774960-58779258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58769989..58771899-chr15:58773674..58776005,2	K562	blood:
2	chr15:58758547..58760128-chr15:58777523..58780209,2	MCF-7	breast:
3	chr15:58778802..58780678-chr15:58783257..58786951,3	K562	blood:

Extended variants
information (count: 197 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:197 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117574640	chr15:58775005-58775006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561628599	chr15:58775019-58775020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs549872081	chr15:58775094-58775095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs79844095	chr15:58775129-58775130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538752007	chr15:58775130-58775131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144057679	chr15:58775176-58775177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572335574	chr15:58775228-58775229	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs534944625	chr15:58775231-58775232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554878626	chr15:58775251-58775252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs11631312	chr15:58775296-58775297	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs543603451	chr15:58775304-58775305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs28406292	chr15:58775335-58775336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs561458605	chr15:58775371-58775372	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187941484	chr15:58775381-58775382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576910618	chr15:58775398-58775399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116422997	chr15:58775399-58775400	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs7172209	chr15:58775418-58775419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs192670107	chr15:58775452-58775453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547700040	chr15:58775473-58775474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147357801	chr15:58775487-58775488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs139405477	chr15:58775498-58775499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs143534008	chr15:58775525-58775526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs74976849	chr15:58775533-58775534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs539159378	chr15:58775542-58775543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs35791113	chr15:58775575-58775576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs552369344	chr15:58775579-58775580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566086858	chr15:58775608-58775609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs12908427	chr15:58775613-58775614	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs370703037	chr15:58775638-58775639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184449790	chr15:58775639-58775640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574740250	chr15:58775710-58775711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537342287	chr15:58775729-58775730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572977012	chr15:58775824-58775825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529013651	chr15:58775866-58775867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34796824	chr15:58775882-58775883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs375326209	chr15:58775883-58775884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs117041583	chr15:58775895-58775896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540902412	chr15:58775935-58775936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201806246	chr15:58775953-58775954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs559147275	chr15:58775964-58775965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs540475668	chr15:58775996-58775997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572515032	chr15:58776171-58776172	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs77615487	chr15:58776220-58776221	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs529247847	chr15:58776288-58776289	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs561343155	chr15:58776308-58776309	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs543849644	chr15:58776347-58776348	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs189273801	chr15:58776374-58776375	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs115866876	chr15:58776419-58776420	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs563936816	chr15:58776509-58776510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs562470851	chr15:58776551-58776552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

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
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
Chronic lymphocytic leukemia	21546498	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
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58769000-58778600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr15:58769400-58778800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:58769600-58775000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr15:58769600-58775000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr15:58769600-58775600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr15:58769600-58775600	Weak transcription	Lung	lung
7	chr15:58769600-58780000	Weak transcription	Right Atrium	heart
8	chr15:58770000-58775000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr15:58770000-58775400	Weak transcription	Primary T cells from cord blood	blood
10	chr15:58770000-58775400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr15:58770000-58777200	Weak transcription	K562	blood
12	chr15:58770200-58775400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr15:58770200-58775600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:58770200-58775600	Weak transcription	Fetal Lung	lung
15	chr15:58770200-58776400	Weak transcription	Right Ventricle	heart
16	chr15:58770200-58776400	Weak transcription	Spleen	Spleen
17	chr15:58770200-58776600	Weak transcription	Thymus	Thymus
18	chr15:58770400-58775400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr15:58770400-58775600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr15:58770400-58775600	Weak transcription	Fetal Thymus	thymus
21	chr15:58770400-58776400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:58770400-58778400	Weak transcription	Pancreas	Pancrea
23	chr15:58770400-58779800	Weak transcription	Left Ventricle	heart
24	chr15:58770600-58775400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr15:58770600-58775600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:58771200-58775600	Weak transcription	Dnd41	blood
27	chr15:58772400-58779800	Weak transcription	Fetal Kidney	kidney
28	chr15:58774600-58780200	Enhancers	HSMMtube	muscle
29	chr15:58774800-58775200	Enhancers	Fetal Muscle Leg	muscle
30	chr15:58774800-58775400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:58774800-58776200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr15:58774800-58777000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr15:58775000-58775800	Enhancers	Fetal Muscle Trunk	muscle
34	chr15:58775000-58777200	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr15:58775000-58780600	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr15:58775200-58775400	Weak transcription	Fetal Muscle Leg	muscle
37	chr15:58775400-58775800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr15:58775400-58775800	Enhancers	Fetal Muscle Leg	muscle
39	chr15:58775400-58776400	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr15:58775400-58776400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr15:58775400-58776400	Enhancers	Fetal Heart	heart
42	chr15:58775400-58776800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:58775400-58777000	Enhancers	Primary T cells from cord blood	blood
44	chr15:58775400-58777600	Enhancers	HSMM	muscle
45	chr15:58775400-58778600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr15:58775400-58779200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr15:58775600-58776600	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr15:58775600-58776600	Enhancers	Fetal Lung	lung
49	chr15:58775600-58776800	Enhancers	Dnd41	blood
50	chr15:58775600-58777000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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