Variant report

Variant	esv18422
Chromosome Location	chr16:12673216-12674386
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 177 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:177 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9936717	chr16:12673222-12673223	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554518627	chr16:12673234-12673235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377303217	chr16:12673238-12673239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150925605	chr16:12673246-12673247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139838950	chr16:12673249-12673250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566609996	chr16:12673252-12673253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4781272	chr16:12673266-12673267	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs9926239	chr16:12673270-12673271	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs569107915	chr16:12673273-12673274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs368028938	chr16:12673292-12673293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201271012	chr16:12673302-12673303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367873554	chr16:12673307-12673308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143262648	chr16:12673312-12673313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575260438	chr16:12673322-12673323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183219187	chr16:12673328-12673329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146987049	chr16:12673329-12673330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186760669	chr16:12673330-12673331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs375286010	chr16:12673333-12673334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs191179224	chr16:12673334-12673335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545553377	chr16:12673335-12673336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs4781273	chr16:12673358-12673359	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs567346617	chr16:12673363-12673364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531168934	chr16:12673364-12673365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534668190	chr16:12673365-12673366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184768165	chr16:12673370-12673371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370020817	chr16:12673374-12673375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558184928	chr16:12673379-12673380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs115307231	chr16:12673386-12673387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547303093	chr16:12673388-12673389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs146698316	chr16:12673392-12673393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4781274	chr16:12673394-12673395	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs576292085	chr16:12673404-12673405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569371472	chr16:12673407-12673408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112682656	chr16:12673421-12673422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537845072	chr16:12673422-12673423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141326468	chr16:12673424-12673425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568758124	chr16:12673429-12673430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4781275	chr16:12673430-12673431	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs554528666	chr16:12673431-12673432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557571121	chr16:12673442-12673443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543633288	chr16:12673456-12673457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574181754	chr16:12673466-12673467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs111727541	chr16:12673472-12673473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs542705593	chr16:12673488-12673489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187567488	chr16:12673493-12673494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555976387	chr16:12673505-12673506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9926489	chr16:12673521-12673522	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs541444514	chr16:12673522-12673523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375931678	chr16:12673527-12673528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs79137985	chr16:12673529-12673530	Weak transcription	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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12670800-12674400	Weak transcription	GM12878-XiMat	blood
2	chr16:12671000-12678400	Weak transcription	Gastric	stomach
3	chr16:12671200-12677600	Weak transcription	HepG2	liver
4	chr16:12672200-12674400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr16:12672400-12674600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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