Variant report

Variant	esv3419928
Chromosome Location	chr16:76003901-76005349
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113496418	chr16:76003953-76003954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs541691424	chr16:76004003-76004004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78882997	chr16:76004008-76004009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187431682	chr16:76004042-76004043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs551695655	chr16:76004052-76004053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147707843	chr16:76004053-76004054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530411451	chr16:76004061-76004062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs77046817	chr16:76004067-76004068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572359647	chr16:76004081-76004082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561138763	chr16:76004122-76004123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550519576	chr16:76004133-76004134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567274705	chr16:76004162-76004163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536298141	chr16:76004192-76004193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367849598	chr16:76004198-76004199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566714840	chr16:76004216-76004217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs190749615	chr16:76004219-76004220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530142480	chr16:76004238-76004239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs558806767	chr16:76004288-76004289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552876245	chr16:76004364-76004365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs66477938	chr16:76004365-76004366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs35664043	chr16:76004371-76004372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs59264509	chr16:76004372-76004373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs56160352	chr16:76004384-76004385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113011019	chr16:76004391-76004392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142304526	chr16:76004400-76004401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs67048942	chr16:76004402-76004403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs34296051	chr16:76004403-76004404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181081358	chr16:76004414-76004415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs35716628	chr16:76004415-76004416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554898167	chr16:76004423-76004424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550382712	chr16:76004427-76004428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs2866260	chr16:76004482-76004483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs574843217	chr16:76004511-76004512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540720045	chr16:76004529-76004530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs55935534	chr16:76004575-76004576	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs190390007	chr16:76004637-76004638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545358044	chr16:76004688-76004689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs146947698	chr16:76004695-76004696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147597080	chr16:76004757-76004758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs377293521	chr16:76004773-76004774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs117155858	chr16:76004811-76004812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs202199937	chr16:76004825-76004826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs374069231	chr16:76004828-76004829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560900279	chr16:76004857-76004858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs140680129	chr16:76004879-76004880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546287889	chr16:76004911-76004912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566757986	chr16:76004919-76004920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199610867	chr16:76004942-76004943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs182739685	chr16:76005000-76005001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537082523	chr16:76005001-76005002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76000400-76007800	Weak transcription	Brain Angular Gyrus	brain

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