Variant report

Variant	nsv457538
Chromosome Location	chr16:76430527-76453043
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 222 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1506840	chr16:76430527-76430528	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs555992518	chr16:76430543-76430544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576039482	chr16:76430559-76430560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs541554588	chr16:76430563-76430564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555586057	chr16:76430577-76430578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114130093	chr16:76430579-76430580	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144587372	chr16:76430596-76430597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575783377	chr16:76430649-76430650	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191530085	chr16:76430658-76430659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184145968	chr16:76430659-76430660	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533379970	chr16:76430681-76430682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139681953	chr16:76430742-76430743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs570056658	chr16:76430788-76430789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145194009	chr16:76430793-76430794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549056786	chr16:76430796-76430797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs565764312	chr16:76430805-76430806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534670625	chr16:76430813-76430814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553665206	chr16:76430876-76430877	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs570683879	chr16:76430888-76430889	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547311153	chr16:76430895-76430896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189787235	chr16:76430896-76430897	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78939595	chr16:76430901-76430902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181393513	chr16:76430905-76430906	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs368992427	chr16:76430908-76430909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372215756	chr16:76430912-76430913	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147273463	chr16:76430926-76430927	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4531754	chr16:76430942-76430943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs140865475	chr16:76430991-76430992	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142334607	chr16:76431033-76431034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs151256801	chr16:76431035-76431036	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs386792265	chr16:76431067-76431068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115170646	chr16:76431068-76431069	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs543755785	chr16:76431121-76431122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563949258	chr16:76431148-76431149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529451018	chr16:76431177-76431178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs533430220	chr16:76431183-76431184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549087089	chr16:76431204-76431205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116686783	chr16:76431211-76431212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185012818	chr16:76431232-76431233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369915255	chr16:76431267-76431268	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551313579	chr16:76431302-76431303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs571544488	chr16:76431311-76431312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539759712	chr16:76431327-76431328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190301290	chr16:76431358-76431359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181990681	chr16:76431359-76431360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186385375	chr16:76431396-76431397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140433874	chr16:76431414-76431415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs535020084	chr16:76431457-76431458	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189649613	chr16:76431460-76431461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs534604817	chr16:76431469-76431470	Weak transcription Enhancers	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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76422200-76432200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76422400-76432000	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:76430200-76431600	Enhancers	HepG2	liver
4	chr16:76430800-76431200	Enhancers	Liver	Liver
5	chr16:76432200-76432400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
6	chr16:76432200-76432400	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr16:76442600-76444600	Enhancers	Fetal Lung	lung
8	chr16:76452800-76453600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr16:76452800-76453800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:76453000-76475000	Weak transcription	Brain Cingulate Gyrus	brain

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