Variant report

Variant	esv3370999
Chromosome Location	chr16:12669859-12670212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:42 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545608317	chr16:12669903-12669904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs61033720	chr16:12669920-12669921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs200278579	chr16:12669921-12669922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs4781267	chr16:12669941-12669942	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs369589215	chr16:12669953-12669954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4781268	chr16:12669962-12669963	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs538947143	chr16:12669963-12669964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374867293	chr16:12669986-12669987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368618466	chr16:12669989-12669990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187106958	chr16:12669993-12669994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs569104185	chr16:12670000-12670001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539379000	chr16:12670001-12670002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs549550951	chr16:12670009-12670010	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569481032	chr16:12670015-12670016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs148701706	chr16:12670024-12670025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs554594986	chr16:12670038-12670039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs4780454	chr16:12670048-12670049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11644028	chr16:12670050-12670051	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs201402602	chr16:12670052-12670053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs369189721	chr16:12670054-12670055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs146952316	chr16:12670055-12670056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs563113909	chr16:12670065-12670066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4781269	chr16:12670072-12670073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs11647633	chr16:12670088-12670089	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs574400561	chr16:12670093-12670094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs191954556	chr16:12670098-12670099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs181407262	chr16:12670099-12670100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs577443865	chr16:12670107-12670108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546552365	chr16:12670112-12670113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563189557	chr16:12670132-12670133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs78565871	chr16:12670138-12670139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs185498532	chr16:12670150-12670151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553457550	chr16:12670154-12670155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371419459	chr16:12670158-12670159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190298308	chr16:12670163-12670164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs547350735	chr16:12670181-12670182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs555463945	chr16:12670188-12670189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs547412767	chr16:12670196-12670197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs148779643	chr16:12670205-12670206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141563670	chr16:12670206-12670207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182502903	chr16:12670209-12670210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549638723	chr16:12670211-12670212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12613000-12670800	Weak transcription	Pancreas	Pancrea
2	chr16:12652600-12672200	Weak transcription	Right Ventricle	heart
3	chr16:12661800-12670400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:12662800-12672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:12664000-12670600	Weak transcription	Gastric	stomach
6	chr16:12664600-12670600	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr16:12665000-12670600	Weak transcription	Spleen	Spleen
8	chr16:12667800-12670400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:12668000-12670600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:12668400-12670200	Weak transcription	Primary B cells from cord blood	blood
11	chr16:12668400-12672400	Weak transcription	Fetal Intestine Small	intestine
12	chr16:12668600-12671000	Weak transcription	HepG2	liver
13	chr16:12668600-12672200	Enhancers	Primary B cells from peripheral blood	blood
14	chr16:12668800-12670400	Weak transcription	GM12878-XiMat	blood
15	chr16:12669400-12673000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:12670200-12672000	Enhancers	Primary B cells from cord blood	blood

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