Variant report

Variant	esv2760056
Chromosome Location	chr15:92581551-92615246
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:92582522..92585507-chr15:92601310..92602850,2	MCF-7	breast:
2	chr15:92584947..92586453-chr15:92587413..92590025,2	K562	blood:
3	chr15:92582922..92584573-chr15:92591529..92593824,2	MCF-7	breast:
4	chr15:92611564..92613241-chr15:92617063..92619542,2	MCF-7	breast:
5	chr15:92495196..92498509-chr15:92585959..92588143,4	MCF-7	breast:
6	chr15:92578004..92579721-chr15:92585811..92587645,2	K562	blood:
7	chr15:92582522..92585507-chr15:92601310..92602850,2	MCF-7	breast:
8	chr15:92613588..92616911-chr15:92617353..92620743,5	MCF-7	breast:
9	chr15:92605416..92607446-chr15:92609381..92611493,2	MCF-7	breast:
10	chr15:92584947..92586453-chr15:92587413..92590025,2	K562	blood:
11	chr15:92524405..92526013-chr15:92611226..92613057,2	MCF-7	breast:
12	chr15:92582922..92584573-chr15:92591529..92593824,2	MCF-7	breast:
13	chr15:92605416..92607446-chr15:92609381..92611493,2	MCF-7	breast:

No data

Extended variants
information (count: 1482 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1482 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35910954	chr15:92581551-92581552	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs77800196	chr15:92581573-92581574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs184628559	chr15:92581586-92581587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532507078	chr15:92581617-92581618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546230384	chr15:92581636-92581637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145453406	chr15:92581681-92581682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531897615	chr15:92581686-92581687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs8038377	chr15:92581761-92581762	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs568444740	chr15:92581784-92581785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs527978699	chr15:92581799-92581800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs8039834	chr15:92581849-92581850	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs143948357	chr15:92581866-92581867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs189899088	chr15:92581874-92581875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148619808	chr15:92581926-92581927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs568972942	chr15:92581947-92581948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs538071432	chr15:92581951-92581952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs141143522	chr15:92581971-92581972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs113666320	chr15:92581978-92581979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs540490852	chr15:92581996-92581997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs114984858	chr15:92582008-92582009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150710422	chr15:92582018-92582019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181475454	chr15:92582030-92582031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs113559768	chr15:92582037-92582038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544840390	chr15:92582074-92582075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531692083	chr15:92582081-92582082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542067811	chr15:92582114-92582115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs58202065	chr15:92582119-92582120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs561938049	chr15:92582146-92582147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112986608	chr15:92582184-92582185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376725557	chr15:92582193-92582194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186114390	chr15:92582263-92582264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566368256	chr15:92582275-92582276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532098163	chr15:92582299-92582300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs117435688	chr15:92582301-92582302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11783686	chr15:92582308-92582309	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4472509	chr15:92582332-92582333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191032990	chr15:92582396-92582397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182062723	chr15:92582398-92582399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556498320	chr15:92582399-92582400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs141045089	chr15:92582406-92582407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568212708	chr15:92582448-92582449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534100111	chr15:92582455-92582456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7164111	chr15:92582534-92582535	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs7164114	chr15:92582539-92582540	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs539847258	chr15:92582555-92582556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556282760	chr15:92582557-92582558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530146055	chr15:92582562-92582563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs5978390	chr15:92582577-92582578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2901566	chr15:92582683-92582684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs4307169	chr15:92582690-92582691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Sudden cardiac death	19188705	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Epilepsy	19486360	CNVD
Acute myeloid leukemia	17237825	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ovarian cancer	21720365	CNVD
Developmental delay	21147756	CNVD
Hepatocellular carcinoma	16750200	CNVD
Central neurocytomas	17123091	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Burkitt''s lymphoma	19759907	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:646 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92574200-92585800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr15:92574800-92585800	Weak transcription	Pancreas	Pancrea
3	chr15:92575600-92584000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr15:92575800-92584400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr15:92576000-92583800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr15:92577000-92586600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr15:92577400-92584400	Weak transcription	Brain Anterior Caudate	brain
8	chr15:92578000-92583800	Weak transcription	Esophagus	oesophagus
9	chr15:92578000-92583800	Weak transcription	Right Atrium	heart
10	chr15:92578000-92584800	Weak transcription	Brain Hippocampus Middle	brain
11	chr15:92578000-92585600	Weak transcription	Spleen	Spleen
12	chr15:92578200-92583800	Weak transcription	Fetal Heart	heart
13	chr15:92579000-92587000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr15:92579200-92583800	Weak transcription	Brain Substantia Nigra	brain
15	chr15:92579200-92583800	Weak transcription	Right Ventricle	heart
16	chr15:92579200-92585200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr15:92579400-92584400	Weak transcription	Brain Angular Gyrus	brain
18	chr15:92579400-92585200	Weak transcription	Left Ventricle	heart
19	chr15:92579400-92585200	Weak transcription	Lung	lung
20	chr15:92579400-92591200	Weak transcription	Ovary	ovary
21	chr15:92581000-92593400	Weak transcription	Aorta	Aorta
22	chr15:92581200-92586600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:92581400-92584400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr15:92581400-92586800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:92583600-92584200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:92583800-92584000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr15:92583800-92584000	Enhancers	Gastric	stomach
28	chr15:92583800-92584200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr15:92583800-92584400	Enhancers	Right Ventricle	heart
30	chr15:92583800-92584600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:92583800-92586000	Enhancers	Esophagus	oesophagus
32	chr15:92583800-92586400	Enhancers	Brain Substantia Nigra	brain
33	chr15:92583800-92587200	Enhancers	Fetal Heart	heart
34	chr15:92583800-92587400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr15:92583800-92588200	Enhancers	Right Atrium	heart
36	chr15:92584000-92584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr15:92584000-92585200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr15:92584000-92586200	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr15:92584000-92588000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr15:92584200-92584400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr15:92584200-92584400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr15:92584200-92584600	Enhancers	Psoas Muscle	Psoas
43	chr15:92584200-92585600	Weak transcription	Gastric	stomach
44	chr15:92584400-92584600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr15:92584400-92584600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr15:92584400-92584600	Enhancers	Brain Angular Gyrus	brain
47	chr15:92584400-92584600	Enhancers	Brain Anterior Caudate	brain
48	chr15:92584400-92584600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr15:92584400-92584800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr15:92584400-92585400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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