Variant report

Variant	esv2763095
Chromosome Location	chr15:42417434-42423630
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:42420757..42423368-chr15:42423954..42427575,3	K562	blood:
2	chr15:42407343..42409321-chr15:42417002..42418957,2	K562	blood:
3	chr15:42360775..42361464-chr15:42423274..42423858,2	MCF-7	breast:

Extended variants
information (count: 217 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:217 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529908115	chr15:42417459-42417460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs567354368	chr15:42417460-42417461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546431970	chr15:42417489-42417490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs76834612	chr15:42417504-42417505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs3035792	chr15:42417562-42417563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs558552606	chr15:42417563-42417564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs398027017	chr15:42417577-42417578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs532209299	chr15:42417588-42417589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs569757913	chr15:42417631-42417632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537587275	chr15:42417649-42417650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552283362	chr15:42417650-42417651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546050387	chr15:42417663-42417664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568897759	chr15:42417677-42417678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs537436299	chr15:42417682-42417683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140115038	chr15:42417684-42417685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs193253273	chr15:42417693-42417694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143801397	chr15:42417777-42417778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553914186	chr15:42417838-42417839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs185388810	chr15:42417850-42417851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs146683755	chr15:42417910-42417911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148861765	chr15:42417952-42417953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs367777550	chr15:42417960-42417961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs142510238	chr15:42417970-42417971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs201042154	chr15:42417994-42417995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78462920	chr15:42418002-42418003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538858356	chr15:42418035-42418036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370255993	chr15:42418057-42418058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs582881	chr15:42418085-42418086	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs150939279	chr15:42418117-42418118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77544818	chr15:42418123-42418124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs552343825	chr15:42418323-42418324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562530856	chr15:42418341-42418342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs641601	chr15:42418345-42418346	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs547851329	chr15:42418366-42418367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187891513	chr15:42418383-42418384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534260047	chr15:42418386-42418387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs547663318	chr15:42418411-42418412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570758863	chr15:42418468-42418469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs539635302	chr15:42418499-42418500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77892068	chr15:42418504-42418505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs34972163	chr15:42418531-42418532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140721714	chr15:42418618-42418619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs114790742	chr15:42418630-42418631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572386118	chr15:42418635-42418636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs540560082	chr15:42418760-42418761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113047538	chr15:42418795-42418796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537274918	chr15:42418814-42418815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545976684	chr15:42418830-42418831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs562596068	chr15:42418859-42418860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531276964	chr15:42418883-42418884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
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
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
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	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
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Myelofibrosis	22110671	CNVD
Maculopathy	20981449	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42411600-42444200	Weak transcription	Right Atrium	heart
2	chr15:42415800-42419600	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr15:42419600-42419800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr15:42419600-42420000	Enhancers	Monocytes-CD14+_RO01746	blood
5	chr15:42419800-42429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:42422000-42422600	Active TSS	GM12878-XiMat	blood
7	chr15:42422400-42423200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr15:42422400-42423400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr15:42422400-42426200	Enhancers	Fetal Thymus	thymus
10	chr15:42422600-42422800	Enhancers	GM12878-XiMat	blood
11	chr15:42423200-42425000	Enhancers	Fetal Muscle Trunk	muscle
12	chr15:42423400-42425000	Enhancers	Fetal Muscle Leg	muscle
13	chr15:42423600-42424800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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