Variant report

Variant	esv13875
Chromosome Location	chr15:76884015-76896813
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 395 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs71405218	chr15:76884051-76884052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs528466029	chr15:76884074-76884075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540272292	chr15:76884079-76884080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576363385	chr15:76884086-76884087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs35994108	chr15:76884126-76884127	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs2469244	chr15:76884127-76884128	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs529619983	chr15:76884179-76884180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551014072	chr15:76884189-76884190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559088362	chr15:76884207-76884208	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs71405219	chr15:76884225-76884226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569399914	chr15:76884230-76884231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565053042	chr15:76884233-76884234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114335674	chr15:76884260-76884261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs566617097	chr15:76884269-76884270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs376695567	chr15:76884300-76884301	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73457039	chr15:76884358-76884359	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192112297	chr15:76884384-76884385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527738538	chr15:76884415-76884416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184635781	chr15:76884427-76884428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370870568	chr15:76884429-76884430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200705373	chr15:76884471-76884472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs10775212	chr15:76884472-76884473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202170647	chr15:76884474-76884475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs577374041	chr15:76884478-76884479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs148501449	chr15:76884480-76884481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557822841	chr15:76884517-76884518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs188323663	chr15:76884519-76884520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62030416	chr15:76884523-76884524	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs192255606	chr15:76884531-76884532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs529286578	chr15:76884543-76884544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs544849920	chr15:76884591-76884592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs367809165	chr15:76884597-76884598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs368729540	chr15:76884598-76884599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372306744	chr15:76884599-76884600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375031213	chr15:76884600-76884601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs555732889	chr15:76884653-76884654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563042738	chr15:76884831-76884832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533562470	chr15:76884848-76884849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs560746867	chr15:76884913-76884914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535274657	chr15:76884921-76884922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566555056	chr15:76884951-76884952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs142825935	chr15:76884961-76884962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548824677	chr15:76885001-76885002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs567217000	chr15:76885050-76885051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184586703	chr15:76885065-76885066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529985098	chr15:76885090-76885091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189452185	chr15:76885191-76885192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571250844	chr15:76885195-76885196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557460343	chr15:76885219-76885220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575649428	chr15:76885305-76885306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Intellectual disability	22102821	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
Prostate cancer	18632612	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Cancer	16751803	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Breast cancer	17133270	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	17322880	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Autism	21480499	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:76878200-76884200	Weak transcription	Right Ventricle	heart
2	chr15:76878800-76884800	Weak transcription	Primary T cells from cord blood	blood
3	chr15:76879800-76885600	Weak transcription	Pancreas	Pancrea
4	chr15:76882000-76885200	Weak transcription	Left Ventricle	heart
5	chr15:76882000-76887800	Weak transcription	Lung	lung
6	chr15:76882200-76991400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr15:76882400-76884800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:76882400-76884800	Weak transcription	Fetal Stomach	stomach
9	chr15:76882400-76885800	Weak transcription	Fetal Intestine Small	intestine
10	chr15:76882400-76887800	Weak transcription	Primary B cells from cord blood	blood
11	chr15:76882400-76887800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr15:76882600-76884200	Weak transcription	Thymus	Thymus
13	chr15:76882600-76884600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr15:76882600-76886400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr15:76882800-76884600	Weak transcription	Liver	Liver
16	chr15:76883000-76884600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr15:76884200-76884400	Enhancers	Right Ventricle	heart
18	chr15:76885800-76886000	ZNF genes & repeats	Fetal Intestine Small	intestine
19	chr15:76896800-76915600	Weak transcription	Primary B cells from cord blood	blood

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