Variant report

Variant	esv3331478
Chromosome Location	chr16:76558551-76560774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142757361	chr16:76558568-76558569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs147366461	chr16:76558600-76558601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs72799048	chr16:76558612-76558613	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs543290421	chr16:76558661-76558662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs139555480	chr16:76558670-76558671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12931455	chr16:76558672-76558673	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs72799049	chr16:76558721-76558722	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs371912373	chr16:76558731-76558732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs5013016	chr16:76558809-76558810	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs72799051	chr16:76558814-76558815	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs561120762	chr16:76558851-76558852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs114029521	chr16:76558853-76558854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145063424	chr16:76558869-76558870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117198613	chr16:76558889-76558890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190388958	chr16:76558910-76558911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549625195	chr16:76558919-76558920	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559969076	chr16:76558924-76558925	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371991332	chr16:76558927-76558928	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62048239	chr16:76558931-76558932	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs551848330	chr16:76558934-76558935	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs571554259	chr16:76558961-76558962	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530893787	chr16:76558964-76558965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs180702301	chr16:76558979-76558980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73621211	chr16:76558980-76558981	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs535343857	chr16:76559000-76559001	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4313828	chr16:76559003-76559004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs565531341	chr16:76559013-76559014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs534461357	chr16:76559021-76559022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147134327	chr16:76559036-76559037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538675946	chr16:76559037-76559038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs569382833	chr16:76559044-76559045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577578566	chr16:76559101-76559102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186009353	chr16:76559121-76559122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556659363	chr16:76559123-76559124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574418220	chr16:76559134-76559135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543332888	chr16:76559154-76559155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs9929145	chr16:76559184-76559185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs548527848	chr16:76559262-76559263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs189987576	chr16:76559286-76559287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs182639195	chr16:76559330-76559331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs4334321	chr16:76559340-76559341	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs4357964	chr16:76559342-76559343	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs550981280	chr16:76559370-76559371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554917571	chr16:76559375-76559376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529193449	chr16:76559394-76559395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62048240	chr16:76559476-76559477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs11275259	chr16:76559522-76559523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565543740	chr16:76559527-76559528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534779191	chr16:76559528-76559529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs151197634	chr16:76559551-76559552	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
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
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76553600-76562200	Weak transcription	Liver	Liver
2	chr16:76554200-76569400	Weak transcription	Brain Angular Gyrus	brain
3	chr16:76554600-76587200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr16:76554600-76587200	Weak transcription	Brain Hippocampus Middle	brain
5	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:76556200-76581800	Weak transcription	Brain Substantia Nigra	brain
7	chr16:76558400-76558600	Enhancers	Fetal Lung	lung
8	chr16:76558600-76559000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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