Variant report

Variant	esv3353837
Chromosome Location	chr16:82308585-82309069
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577043148	chr16:82308586-82308587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191844209	chr16:82308603-82308604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552922498	chr16:82308633-82308634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574238952	chr16:82308636-82308637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541527035	chr16:82308641-82308642	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563011046	chr16:82308682-82308683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs72837079	chr16:82308698-82308699	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs543975763	chr16:82308704-82308705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs565475145	chr16:82308720-82308721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs17235210	chr16:82308747-82308748	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs559072493	chr16:82308799-82308800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547523734	chr16:82308800-82308801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535702641	chr16:82308801-82308802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111434940	chr16:82308812-82308813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142796233	chr16:82308813-82308814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145561651	chr16:82308827-82308828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs570134968	chr16:82308839-82308840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs537268994	chr16:82308849-82308850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs552332230	chr16:82308877-82308878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs571060164	chr16:82308896-82308897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs138063368	chr16:82308904-82308905	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149539418	chr16:82308911-82308912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144003605	chr16:82308928-82308929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs34537105	chr16:82308931-82308932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535055176	chr16:82308932-82308933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184127980	chr16:82308959-82308960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs142740287	chr16:82308990-82308991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs543700816	chr16:82309007-82309008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs185127154	chr16:82309023-82309024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369079342	chr16:82309024-82309025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147387542	chr16:82309030-82309031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139443963	chr16:82309035-82309036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560050939	chr16:82309043-82309044	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs145075744	chr16:82309048-82309049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150931835	chr16:82309068-82309069	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82307600-82308600	Weak transcription	Left Ventricle	heart
2	chr16:82308400-82308800	Enhancers	Right Ventricle	heart
3	chr16:82308600-82309200	Enhancers	Left Ventricle	heart

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