Variant report

Variant	esv9948
Chromosome Location	chr15:92588543-92606763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:92605416..92607446-chr15:92609381..92611493,2	MCF-7	breast:
2	chr15:92584947..92586453-chr15:92587413..92590025,2	K562	blood:
3	chr15:92582522..92585507-chr15:92601310..92602850,2	MCF-7	breast:
4	chr15:92582922..92584573-chr15:92591529..92593824,2	MCF-7	breast:

Extended variants
information (count: 819 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:819 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527977840	chr15:92588556-92588557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs546614808	chr15:92588610-92588611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs559854573	chr15:92588645-92588646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79481910	chr15:92588671-92588672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs182651821	chr15:92588676-92588677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs117914481	chr15:92588685-92588686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187285467	chr15:92588703-92588704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190378181	chr15:92588707-92588708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183727389	chr15:92588740-92588741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570487554	chr15:92588767-92588768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568384167	chr15:92588778-92588779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs140209095	chr15:92588827-92588828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs147407997	chr15:92588849-92588850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1158683	chr15:92588881-92588882	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs577103518	chr15:92588932-92588933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577133268	chr15:92588937-92588938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188608006	chr15:92588943-92588944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs370402569	chr15:92588945-92588946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150321409	chr15:92588948-92588949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs2387404	chr15:92588991-92588992	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs137955058	chr15:92589009-92589010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555535003	chr15:92589013-92589014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572708685	chr15:92589063-92589064	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs193258218	chr15:92589088-92589089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2387403	chr15:92589157-92589158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs143396629	chr15:92589163-92589164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375262759	chr15:92589172-92589173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562619977	chr15:92589235-92589236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147130956	chr15:92589253-92589254	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548411649	chr15:92589264-92589265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563441280	chr15:92589275-92589276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568113710	chr15:92589290-92589291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527603414	chr15:92589305-92589306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182565175	chr15:92589315-92589316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4340310	chr15:92589340-92589341	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs539478869	chr15:92589418-92589419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138564229	chr15:92589464-92589465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567796035	chr15:92589478-92589479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs57274240	chr15:92589483-92589484	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs535516680	chr15:92589509-92589510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555931675	chr15:92589510-92589511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs2892289	chr15:92589518-92589519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs535730280	chr15:92589557-92589558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62008572	chr15:92589590-92589591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs78755386	chr15:92589592-92589593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553957508	chr15:92589594-92589595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113003424	chr15:92589597-92589598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs541727096	chr15:92589601-92589602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs76579996	chr15:92589607-92589608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186950043	chr15:92589640-92589641	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:238 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92579400-92591200	Weak transcription	Ovary	ovary
2	chr15:92581000-92593400	Weak transcription	Aorta	Aorta
3	chr15:92584600-92592600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr15:92585400-92601200	Weak transcription	Fetal Brain Male	brain
5	chr15:92585600-92591400	Weak transcription	Brain Hippocampus Middle	brain
6	chr15:92585800-92592600	Weak transcription	Brain Anterior Caudate	brain
7	chr15:92586000-92591000	Weak transcription	Brain Angular Gyrus	brain
8	chr15:92586000-92593200	Weak transcription	Gastric	stomach
9	chr15:92586200-92591200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr15:92586400-92591000	Weak transcription	Brain Substantia Nigra	brain
11	chr15:92586800-92592200	Weak transcription	Spleen	Spleen
12	chr15:92587200-92589000	Weak transcription	Fetal Heart	heart
13	chr15:92587400-92591000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr15:92587400-92592400	Weak transcription	Lung	lung
15	chr15:92588000-92592400	Weak transcription	Right Ventricle	heart
16	chr15:92588000-92593000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:92588000-92593400	Weak transcription	NHEK	skin
18	chr15:92588200-92591000	Weak transcription	Left Ventricle	heart
19	chr15:92588200-92591000	Weak transcription	Right Atrium	heart
20	chr15:92588200-92591400	Weak transcription	Esophagus	oesophagus
21	chr15:92588200-92592600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr15:92588200-92593000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr15:92588200-92593200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr15:92588200-92593600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr15:92589000-92589400	Enhancers	Fetal Heart	heart
26	chr15:92589400-92592200	Weak transcription	Fetal Heart	heart
27	chr15:92589800-92590000	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr15:92590000-92592600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr15:92591000-92591200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:92591000-92591400	Enhancers	Brain Angular Gyrus	brain
31	chr15:92591000-92595600	Enhancers	Left Ventricle	heart
32	chr15:92591000-92595800	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr15:92591000-92595800	Enhancers	Brain Substantia Nigra	brain
34	chr15:92591000-92595800	Enhancers	Right Atrium	heart
35	chr15:92591200-92591600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:92591200-92591600	Enhancers	Ovary	ovary
37	chr15:92591200-92595800	Enhancers	Brain Cingulate Gyrus	brain
38	chr15:92591200-92610800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr15:92591400-92592600	Weak transcription	Brain Angular Gyrus	brain
40	chr15:92591400-92594600	Enhancers	Esophagus	oesophagus
41	chr15:92591400-92595600	Enhancers	Brain Hippocampus Middle	brain
42	chr15:92591600-92600200	Weak transcription	Ovary	ovary
43	chr15:92592200-92593600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr15:92592200-92594200	Enhancers	Spleen	Spleen
45	chr15:92592200-92594600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr15:92592200-92595600	Enhancers	Fetal Heart	heart
47	chr15:92592400-92593000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr15:92592400-92594200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
49	chr15:92592400-92594800	Enhancers	Lung	lung
50	chr15:92592400-92595400	Enhancers	Right Ventricle	heart

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