Variant report

Variant	esv3423200
Chromosome Location	chr15:33292685-33295233
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	chr15:33276577..33278445-chr15:33292733..33295082,2	MCF-7	breast:
2	chr15:33287991..33290554-chr15:33293399..33295008,2	K562	blood:

Extended variants
information (count: 109 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555284037	chr15:33292726-33292727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573583775	chr15:33292738-33292739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541054983	chr15:33292740-33292741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559297407	chr15:33292744-33292745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373916898	chr15:33292751-33292752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533284187	chr15:33292760-33292761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545445129	chr15:33292780-33292781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74012452	chr15:33292847-33292848	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs561848667	chr15:33292850-33292851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs531175059	chr15:33292882-33292883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs367583522	chr15:33292920-33292921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs143671024	chr15:33292947-33292948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs181098935	chr15:33292954-33292955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567985638	chr15:33292997-33292998	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs371825786	chr15:33292999-33293000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs116033330	chr15:33293009-33293010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529067802	chr15:33293014-33293015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112412369	chr15:33293033-33293034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547431319	chr15:33293065-33293066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs16962859	chr15:33293084-33293085	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs140498685	chr15:33293096-33293097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114517765	chr15:33293121-33293122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78285274	chr15:33293163-33293164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145662605	chr15:33293165-33293166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555122536	chr15:33293208-33293209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573620155	chr15:33293250-33293251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540895586	chr15:33293255-33293256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370779388	chr15:33293300-33293301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs8030413	chr15:33293311-33293312	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs577924199	chr15:33293390-33293391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148891723	chr15:33293416-33293417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs35099504	chr15:33293430-33293431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs563837364	chr15:33293432-33293433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs113141747	chr15:33293465-33293466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143612761	chr15:33293501-33293502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs186436151	chr15:33293566-33293567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs542253841	chr15:33293633-33293634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368645422	chr15:33293640-33293641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190865244	chr15:33293646-33293647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560893991	chr15:33293654-33293655	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs148027437	chr15:33293670-33293671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371896970	chr15:33293710-33293711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565434799	chr15:33293735-33293736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115875670	chr15:33293747-33293748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543920346	chr15:33293748-33293749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs398026773	chr15:33293775-33293776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200187763	chr15:33293833-33293834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs112172460	chr15:33293864-33293865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533215831	chr15:33293890-33293891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs551075577	chr15:33293896-33293897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	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
Hodgkin''s lymphoma	18641027	CNVD
Melanoma	18172304	CNVD
Autism	17322880	CNVD
Prader-willi syndrome	19329560	CNVD
Autism	17999366	CNVD
Autism	17901113	CNVD
Neurodevelopmental disorder	17015230	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Mental retardation	18923513	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
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	17133270	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
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Abnormal corpus callosum	21572526	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Autism	19204725	CNVD
Schizophrenia	19204725	CNVD
Schizophrenia	19149910	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Autism	19521722	CNVD
Bipolar disorder	19114987	CNVD
Epilepsy	19521722	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	19521646	CNVD
Autism	19050728	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18668039	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	19571808	CNVD
Velocardiofacial syndrome	19329560	CNVD
Schizophrenia	19443537	CNVD
Epilepsy	20923578	CNVD
Autism	19955444	CNVD
Autism	20964600	CNVD
Schizophrenia	19955444	CNVD
Olfactory neuroblastoma	18408657	CNVD
Legius syndrome	19443465	CNVD
Holoprosencephaly	21359414	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:33273200-33294000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:33286000-33294000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:33286800-33300000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:33286800-33301200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:33287200-33294000	Weak transcription	Osteobl	bone
6	chr15:33287200-33300400	Weak transcription	NHDF-Ad	bronchial
7	chr15:33288800-33309200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr15:33289200-33298800	Weak transcription	Fetal Thymus	thymus
9	chr15:33289400-33299400	Weak transcription	NHLF	lung
10	chr15:33291000-33299200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr15:33291200-33301200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr15:33292200-33299200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr15:33292400-33292800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr15:33292400-33293800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr15:33292400-33293800	Weak transcription	HSMM	muscle
16	chr15:33292400-33299400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:33292800-33293000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:33293000-33293400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:33293400-33293600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:33293600-33294000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:33293800-33294400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr15:33293800-33294400	Enhancers	HSMM	muscle
23	chr15:33293800-33294800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr15:33294000-33294400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:33294000-33294400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:33294000-33294800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr15:33294000-33294800	Enhancers	HUVEC	blood vessel
28	chr15:33294000-33294800	Enhancers	NH-A	brain
29	chr15:33294000-33294800	Enhancers	Osteobl	bone
30	chr15:33294000-33295000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr15:33294000-33295000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr15:33294400-33294800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr15:33294400-33297800	Weak transcription	HSMM	muscle
34	chr15:33294400-33298200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr15:33294400-33299600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:33294800-33297400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:33294800-33297800	Weak transcription	NH-A	brain
38	chr15:33294800-33299400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr15:33294800-33300000	Weak transcription	Osteobl	bone
40	chr15:33294800-33300800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr15:33295000-33301200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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