Variant report

Variant	esv3351653
Chromosome Location	chr15:39012327-39012868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371242670	chr15:39012371-39012372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138593461	chr15:39012372-39012373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73388145	chr15:39012386-39012387	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs570170144	chr15:39012403-39012404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562843014	chr15:39012449-39012450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs374534564	chr15:39012490-39012491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs180749310	chr15:39012496-39012497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs79838584	chr15:39012524-39012525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs77087158	chr15:39012536-39012537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs8024474	chr15:39012579-39012580	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs149263921	chr15:39012614-39012615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs184551676	chr15:39012621-39012622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565823296	chr15:39012635-39012636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144557883	chr15:39012654-39012655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs367901302	chr15:39012677-39012678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148043788	chr15:39012689-39012690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556977756	chr15:39012697-39012698	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs141724993	chr15:39012716-39012717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542214296	chr15:39012721-39012722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs560578881	chr15:39012722-39012723	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs529530669	chr15:39012729-39012730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541678823	chr15:39012739-39012740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs78532716	chr15:39012751-39012752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs16967268	chr15:39012762-39012763	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs189373614	chr15:39012793-39012794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76304306	chr15:39012799-39012800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs114461401	chr15:39012804-39012805	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570610341	chr15:39012853-39012854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531075247	chr15:39012858-39012859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569790630	chr15:39012860-39012861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Melanoma	18172304	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	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
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	17440070	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ependymoma	19289631	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:39006400-39025000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr15:39007000-39013400	Weak transcription	HSMMtube	muscle
3	chr15:39007600-39013400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr15:39007800-39013200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr15:39008000-39013200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr15:39008200-39013000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:39008200-39013400	Weak transcription	NH-A	brain
8	chr15:39008200-39013400	Weak transcription	NHLF	lung
9	chr15:39008400-39013000	Weak transcription	Osteobl	bone
10	chr15:39008400-39013200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr15:39008400-39013800	Weak transcription	HMEC	breast
12	chr15:39008600-39013000	Weak transcription	HSMM	muscle
13	chr15:39012600-39013200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:39012600-39013600	Enhancers	Fetal Muscle Leg	muscle

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