Variant report

Variant	esv15713
Chromosome Location	chr15:58776459-58777765
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	chr15:58758547..58760128-chr15:58777523..58780209,2	MCF-7	breast:

Extended variants
information (count: 66 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563936816	chr15:58776509-58776510	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs562470851	chr15:58776551-58776552	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs34711460	chr15:58776552-58776553	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs566139475	chr15:58776647-58776648	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535248682	chr15:58776696-58776697	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs553571946	chr15:58776709-58776710	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532568955	chr15:58776716-58776717	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs552656553	chr15:58776717-58776718	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs35120262	chr15:58776747-58776748	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs532788291	chr15:58776748-58776749	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs566003345	chr15:58776763-58776764	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs142158546	chr15:58776807-58776808	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs548652240	chr15:58776814-58776815	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111904157	chr15:58776823-58776824	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs373113611	chr15:58776828-58776829	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556945394	chr15:58776840-58776841	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs570638863	chr15:58776861-58776862	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs539218227	chr15:58776863-58776864	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs553035067	chr15:58776869-58776870	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs149210582	chr15:58776903-58776904	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs61024382	chr15:58776910-58776911	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs572646736	chr15:58776927-58776928	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs541514622	chr15:58776928-58776929	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113817136	chr15:58776977-58776978	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs544614247	chr15:58776987-58776988	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192878435	chr15:58777014-58777015	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373244301	chr15:58777026-58777027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs574874215	chr15:58777082-58777083	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs151186879	chr15:58777104-58777105	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs376042109	chr15:58777152-58777153	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs184834420	chr15:58777166-58777167	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs369987692	chr15:58777184-58777185	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546037509	chr15:58777219-58777220	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs562898366	chr15:58777225-58777226	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs536374452	chr15:58777226-58777227	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs114920697	chr15:58777236-58777237	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs528640062	chr15:58777264-58777265	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs4775058	chr15:58777278-58777279	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs568485492	chr15:58777323-58777324	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs34959352	chr15:58777326-58777327	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs75817136	chr15:58777359-58777360	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs139434906	chr15:58777382-58777383	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs539716684	chr15:58777384-58777385	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs552931543	chr15:58777385-58777386	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs566313352	chr15:58777402-58777403	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs111722517	chr15:58777405-58777406	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs535202136	chr15:58777443-58777444	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs375729648	chr15:58777459-58777460	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs555017607	chr15:58777460-58777461	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs6494014	chr15:58777478-58777479	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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:88 , 50 per page) page: 1 2

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	chr15:58769600-58780000	Weak transcription	Right Atrium	heart
4	chr15:58770000-58777200	Weak transcription	K562	blood
5	chr15:58770200-58776600	Weak transcription	Thymus	Thymus
6	chr15:58770400-58778400	Weak transcription	Pancreas	Pancrea
7	chr15:58770400-58779800	Weak transcription	Left Ventricle	heart
8	chr15:58772400-58779800	Weak transcription	Fetal Kidney	kidney
9	chr15:58774600-58780200	Enhancers	HSMMtube	muscle
10	chr15:58774800-58777000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
11	chr15:58775000-58777200	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr15:58775000-58780600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr15:58775400-58776800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr15:58775400-58777000	Enhancers	Primary T cells from cord blood	blood
15	chr15:58775400-58777600	Enhancers	HSMM	muscle
16	chr15:58775400-58778600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr15:58775400-58779200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr15:58775600-58776600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr15:58775600-58776600	Enhancers	Fetal Lung	lung
20	chr15:58775600-58776800	Enhancers	Dnd41	blood
21	chr15:58775600-58777000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr15:58775600-58778200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr15:58775600-58778200	Enhancers	Lung	lung
24	chr15:58775600-58780400	Enhancers	Fetal Thymus	thymus
25	chr15:58775600-58780800	Enhancers	Primary T cells fromperipheralblood	blood
26	chr15:58775600-58781000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:58775800-58776800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:58775800-58780000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr15:58776000-58776800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr15:58776000-58778200	Enhancers	Primary hematopoietic stem cells	blood
31	chr15:58776200-58777000	Enhancers	Primary neutrophils fromperipheralblood	blood
32	chr15:58776200-58778200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr15:58776400-58776600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
34	chr15:58776400-58776600	Enhancers	Right Ventricle	heart
35	chr15:58776400-58776800	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr15:58776400-58776800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr15:58776400-58777200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:58776400-58777400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr15:58776400-58777600	Enhancers	Primary B cells from cord blood	blood
40	chr15:58776400-58778600	Enhancers	Spleen	Spleen
41	chr15:58776600-58776800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr15:58776600-58776800	Enhancers	Rectal Mucosa Donor 29	rectum
43	chr15:58776600-58777000	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr15:58776600-58778200	Enhancers	Thymus	Thymus
45	chr15:58776600-58778600	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr15:58776600-58782400	Weak transcription	Right Ventricle	heart
47	chr15:58776800-58777000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr15:58776800-58777000	Flanking Active TSS	Dnd41	blood
49	chr15:58776800-58777200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr15:58776800-58777200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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