Variant report

Variant	esv3355515
Chromosome Location	chr15:62329060-62330258
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	chr15:62328623..62331543-chr15:62331564..62333336,2	MCF-7	breast:

Extended variants
information (count: 75 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562823961	chr15:62329075-62329076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs75812366	chr15:62329076-62329077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs199944289	chr15:62329103-62329104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs62007448	chr15:62329170-62329171	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs561042269	chr15:62329184-62329185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs62007449	chr15:62329193-62329194	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs528602495	chr15:62329194-62329195	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs200205122	chr15:62329195-62329196	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs546773825	chr15:62329223-62329224	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs182314954	chr15:62329242-62329243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186839960	chr15:62329293-62329294	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs201253043	chr15:62329350-62329351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs12916052	chr15:62329382-62329383	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs71409107	chr15:62329434-62329435	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11639095	chr15:62329436-62329437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs66808118	chr15:62329451-62329452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367638489	chr15:62329461-62329462	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367850653	chr15:62329462-62329463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs372795051	chr15:62329466-62329467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532271192	chr15:62329472-62329473	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545674524	chr15:62329476-62329477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530807181	chr15:62329478-62329479	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535828548	chr15:62329481-62329482	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs59810139	chr15:62329483-62329484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554597650	chr15:62329484-62329485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11632675	chr15:62329486-62329487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11637940	chr15:62329487-62329488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs28684908	chr15:62329492-62329493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11637942	chr15:62329493-62329494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28628288	chr15:62329498-62329499	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs60431559	chr15:62329504-62329505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs28394504	chr15:62329507-62329508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550673312	chr15:62329509-62329510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs28421152	chr15:62329510-62329511	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs138942875	chr15:62329517-62329518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs28692652	chr15:62329522-62329523	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71409108	chr15:62329533-62329534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11632685	chr15:62329542-62329543	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567608591	chr15:62329559-62329560	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12910565	chr15:62329589-62329590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566564887	chr15:62329595-62329596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs533909760	chr15:62329597-62329598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs8023821	chr15:62329604-62329605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs189400382	chr15:62329607-62329608	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200931598	chr15:62329614-62329615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577085337	chr15:62329626-62329627	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370306864	chr15:62329653-62329654	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372726524	chr15:62329657-62329658	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71125962	chr15:62329660-62329661	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546844953	chr15:62329661-62329662	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
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
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Abnormal phenotypes	18644119	CNVD
Cancer	16751803	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21341218	CNVD
Holoprosencephaly	21359414	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Mental retardation	17124404	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
2	chr15:62244600-62350400	Weak transcription	Small Intestine	intestine
3	chr15:62265600-62338200	Weak transcription	Stomach Mucosa	stomach
4	chr15:62276400-62345000	Weak transcription	Colon Smooth Muscle	Colon
5	chr15:62288600-62336600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr15:62300000-62334600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:62300400-62351400	Weak transcription	Fetal Muscle Leg	muscle
8	chr15:62300600-62330600	Weak transcription	Aorta	Aorta
9	chr15:62300600-62330600	Weak transcription	Fetal Intestine Small	intestine
10	chr15:62300600-62337600	Weak transcription	Fetal Stomach	stomach
11	chr15:62300600-62342400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:62300600-62345800	Weak transcription	Gastric	stomach
13	chr15:62300600-62351800	Weak transcription	Lung	lung
14	chr15:62300800-62351600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr15:62301600-62334400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr15:62301600-62336000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr15:62302200-62351600	Weak transcription	Fetal Thymus	thymus
18	chr15:62302200-62351600	Weak transcription	Ovary	ovary
19	chr15:62302400-62336200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr15:62302800-62333200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:62306200-62343600	Weak transcription	Stomach Smooth Muscle	stomach
22	chr15:62313400-62335400	Weak transcription	Fetal Kidney	kidney
23	chr15:62313400-62337000	Weak transcription	Placenta	Placenta
24	chr15:62313400-62342800	Weak transcription	Left Ventricle	heart
25	chr15:62313400-62345600	Weak transcription	Brain Anterior Caudate	brain
26	chr15:62313600-62332600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:62314800-62338000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:62315000-62330400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr15:62315200-62334200	Weak transcription	Fetal Lung	lung
30	chr15:62315200-62338400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr15:62315200-62342600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:62320000-62336600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr15:62320600-62335400	Weak transcription	Fetal Intestine Large	intestine
34	chr15:62321200-62350800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:62322600-62333000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr15:62322800-62332000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr15:62322800-62332000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:62322800-62338600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr15:62323000-62330200	Weak transcription	Liver	Liver
40	chr15:62323000-62330600	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr15:62323400-62332200	Weak transcription	Adipose Nuclei	Adipose
42	chr15:62323600-62333200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr15:62325800-62332200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr15:62326000-62330200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr15:62326000-62332000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr15:62326200-62329800	Weak transcription	Primary B cells from cord blood	blood
47	chr15:62326200-62332200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr15:62326200-62337800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr15:62326600-62337800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr15:62327000-62329800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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