Variant report

Variant	esv3312433
Chromosome Location	chr15:58859060-58860208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58857358..58859219-chr15:58863584..58865207,2	K562	blood:
2	chr15:58858333..58860750-chr15:58870905..58872413,2	K562	blood:
3	chr15:58855055..58857360-chr15:58858745..58860281,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11637823	chr15:58859060-58859061	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114687875	chr15:58859087-58859088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547400512	chr15:58859128-58859129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187455794	chr15:58859155-58859156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551125707	chr15:58859161-58859162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs529610227	chr15:58859261-58859262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs549353496	chr15:58859262-58859263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564461189	chr15:58859269-58859270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569394334	chr15:58859270-58859271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537956751	chr15:58859278-58859279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551827696	chr15:58859316-58859317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571325135	chr15:58859317-58859318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs191389873	chr15:58859341-58859342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576719453	chr15:58859379-58859380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111285504	chr15:58859395-58859396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs377469428	chr15:58859400-58859401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs60540285	chr15:58859408-58859409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201028875	chr15:58859411-58859412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs71407075	chr15:58859413-58859414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs142177961	chr15:58859432-58859433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200390997	chr15:58859436-58859437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs527639033	chr15:58859437-58859438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71116574	chr15:58859449-58859450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs28405825	chr15:58859450-58859451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs8039587	chr15:58859460-58859461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs373158683	chr15:58859464-58859465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs8039591	chr15:58859468-58859469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113085870	chr15:58859480-58859481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181377068	chr15:58859482-58859483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185029538	chr15:58859484-58859485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369112006	chr15:58859486-58859487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8039280	chr15:58859492-58859493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs55671731	chr15:58859493-58859494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs55769735	chr15:58859496-58859497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377413022	chr15:58859505-58859506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs71116576	chr15:58859506-58859507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368133077	chr15:58859514-58859515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78333550	chr15:58859520-58859521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs8039734	chr15:58859522-58859523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78220635	chr15:58859528-58859529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs8040638	chr15:58859529-58859530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs55958643	chr15:58859531-58859532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373869836	chr15:58859533-58859534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28656452	chr15:58859535-58859536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370779087	chr15:58859537-58859538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8039743	chr15:58859538-58859539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190316834	chr15:58859543-58859544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs3985722	chr15:58859544-58859545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200780506	chr15:58859545-58859546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2414604	chr15:58859547-58859548	Weak transcription	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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58844600-58860400	Weak transcription	Primary T cells from cord blood	blood
2	chr15:58847200-58860400	Weak transcription	Thymus	Thymus
3	chr15:58852400-58860400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr15:58853200-58865000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr15:58853600-58860200	Weak transcription	Stomach Mucosa	stomach
6	chr15:58854200-58860400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr15:58854200-58860400	Weak transcription	Pancreas	Pancrea
8	chr15:58854600-58860400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr15:58854600-58864200	Weak transcription	HepG2	liver
10	chr15:58854800-58868400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:58857800-58860400	Weak transcription	Fetal Thymus	thymus
12	chr15:58857800-58860600	Weak transcription	Fetal Kidney	kidney
13	chr15:58857800-58862800	Weak transcription	Colonic Mucosa	Colon
14	chr15:58858400-58860400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:58858600-58859800	Weak transcription	Adipose Nuclei	Adipose
16	chr15:58858600-58860200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr15:58858600-58860400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr15:58859000-58860200	Weak transcription	NHEK	skin
19	chr15:58859000-58865600	Weak transcription	Liver	Liver
20	chr15:58859800-58860000	Enhancers	Adipose Nuclei	Adipose
21	chr15:58859800-58861000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr15:58859800-58861200	Enhancers	K562	blood
23	chr15:58860200-58860600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr15:58860200-58860800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr15:58860200-58860800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr15:58860200-58860800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr15:58860200-58860800	Enhancers	Stomach Mucosa	stomach
28	chr15:58860200-58860800	Enhancers	HMEC	breast
29	chr15:58860200-58861000	Enhancers	HUVEC	blood vessel
30	chr15:58860200-58861000	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:58860200-58861000	Enhancers	NHEK	skin
32	chr15:58860200-58861200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr15:58860200-58861200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr15:58860200-58861200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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