Variant report

Variant	esv3515826
Chromosome Location	chr15:45139160-45146958
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:45145307..45146142-chr15:45409718..45410518,2	K562	blood:

Extended variants
information (count: 326 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:326 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564669520	chr15:45139185-45139186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533653625	chr15:45139221-45139222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs549927944	chr15:45139274-45139275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563307621	chr15:45139291-45139292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533683730	chr15:45139332-45139333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138487767	chr15:45139424-45139425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs375709769	chr15:45139435-45139436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549015976	chr15:45139478-45139479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565829897	chr15:45139496-45139497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534555415	chr15:45139511-45139512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560311773	chr15:45139519-45139520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551536171	chr15:45139580-45139581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571480808	chr15:45139613-45139614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537324753	chr15:45139615-45139616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556698344	chr15:45139642-45139643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs200813917	chr15:45139665-45139666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113222011	chr15:45139669-45139670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs201898029	chr15:45139761-45139762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs114143546	chr15:45139851-45139852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs377170579	chr15:45139855-45139856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536358497	chr15:45139880-45139881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553152948	chr15:45139938-45139939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs370512572	chr15:45139943-45139944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1290484	chr15:45139996-45139997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573547549	chr15:45140025-45140026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs541299166	chr15:45140033-45140034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369722740	chr15:45140047-45140048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs201826036	chr15:45140161-45140162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs578197241	chr15:45140172-45140173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs544050119	chr15:45140189-45140190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563346064	chr15:45140237-45140238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529295154	chr15:45140261-45140262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542602569	chr15:45140279-45140280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183942475	chr15:45140288-45140289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528566021	chr15:45140300-45140301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs2689293	chr15:45140374-45140375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs139935177	chr15:45140377-45140378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2689294	chr15:45140401-45140402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34519038	chr15:45140430-45140431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs556188896	chr15:45140460-45140461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201426318	chr15:45140482-45140483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79687847	chr15:45140485-45140486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142769681	chr15:45140496-45140497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201391403	chr15:45140502-45140503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530724387	chr15:45140532-45140533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs543992850	chr15:45140542-45140543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550849928	chr15:45140553-45140554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149167876	chr15:45140561-45140562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs536296772	chr15:45140613-45140614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs114733967	chr15:45140682-45140683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	21129771	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	21045282	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Melanoma	17363583	CNVD
Acute myeloid leukemia	19651601	CNVD
Marfan syndrome	17492313	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45134400-45141000	Weak transcription	HepG2	liver
2	chr15:45137800-45145200	Weak transcription	Pancreas	Pancrea
3	chr15:45141000-45142000	Enhancers	Liver	Liver
4	chr15:45141000-45142200	Enhancers	HepG2	liver
5	chr15:45141200-45145600	Enhancers	HUVEC	blood vessel
6	chr15:45141800-45142200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr15:45141800-45142200	Enhancers	Lung	lung
8	chr15:45142000-45144400	Weak transcription	Liver	Liver
9	chr15:45142200-45143800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr15:45142200-45143800	Weak transcription	HepG2	liver
11	chr15:45143800-45145000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr15:45143800-45145400	Enhancers	HepG2	liver
13	chr15:45144400-45147200	Enhancers	Liver	Liver
14	chr15:45144600-45145400	Enhancers	Pancreatic Islets	Pancreatic Islet
15	chr15:45144600-45146000	Enhancers	K562	blood
16	chr15:45145200-45145800	Enhancers	Pancreas	Pancrea
17	chr15:45145400-45145800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr15:45145400-45145800	Enhancers	Stomach Mucosa	stomach
19	chr15:45145400-45146200	Flanking Active TSS	HepG2	liver
20	chr15:45145600-45145800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr15:45145600-45146000	Enhancers	Brain Hippocampus Middle	brain
22	chr15:45145600-45146200	Enhancers	Brain Anterior Caudate	brain
23	chr15:45145600-45147200	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr15:45145800-45146000	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr15:45145800-45146000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:45145800-45146000	Active TSS	NHDF-Ad	bronchial
27	chr15:45145800-45146200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:45145800-45146200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr15:45145800-45146200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr15:45145800-45146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:45145800-45146200	Active TSS	A549	lung
32	chr15:45145800-45146200	Enhancers	Hela-S3	cervix
33	chr15:45146000-45146200	Active TSS	Monocytes-CD14+_RO01746	blood
34	chr15:45146000-45146200	Flanking Active TSS	NHDF-Ad	bronchial
35	chr15:45146000-45146600	Enhancers	Primary B cells from cord blood	blood
36	chr15:45146000-45147000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr15:45146000-45153200	Weak transcription	K562	blood
38	chr15:45146200-45147200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr15:45146200-45147600	Enhancers	HepG2	liver

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