Variant report

Variant	esv2642472
Chromosome Location	chr16:76597975-76602035
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34679893	chr16:76597984-76597985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539523585	chr16:76597985-76597986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182861337	chr16:76598003-76598004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs373851632	chr16:76598010-76598011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550217787	chr16:76598013-76598014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569963840	chr16:76598016-76598017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs535416588	chr16:76598055-76598056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554445642	chr16:76598056-76598057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs574387628	chr16:76598075-76598076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs533777362	chr16:76598093-76598094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs138643146	chr16:76598105-76598106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534588379	chr16:76598116-76598117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs545604220	chr16:76598132-76598133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149308778	chr16:76598142-76598143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576117937	chr16:76598178-76598179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144535638	chr16:76598195-76598196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562418626	chr16:76598222-76598223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527971242	chr16:76598342-76598343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs186186195	chr16:76598362-76598363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs138410418	chr16:76598370-76598371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564544608	chr16:76598435-76598436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545053124	chr16:76598451-76598452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144731477	chr16:76598464-76598465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs73628409	chr16:76598505-76598506	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550015672	chr16:76598512-76598513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569766599	chr16:76598521-76598522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535502615	chr16:76598540-76598541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565158954	chr16:76598544-76598545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs548956448	chr16:76598579-76598580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs527852422	chr16:76598592-76598593	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568048909	chr16:76598607-76598608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191477771	chr16:76598716-76598717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs554006771	chr16:76598765-76598766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs143895536	chr16:76598781-76598782	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4531751	chr16:76598782-76598783	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs34180933	chr16:76598811-76598812	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576205067	chr16:76598826-76598827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs114049983	chr16:76598829-76598830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs147247941	chr16:76598852-76598853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572040821	chr16:76598867-76598868	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541374700	chr16:76598868-76598869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs578059030	chr16:76598871-76598872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140662492	chr16:76598872-76598873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533363833	chr16:76598914-76598915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543992073	chr16:76598930-76598931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563481240	chr16:76598949-76598950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529332064	chr16:76598982-76598983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35948950	chr16:76598992-76598993	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs141412115	chr16:76599039-76599040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs9930492	chr16:76599110-76599111	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:69)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76588000-76599400	Weak transcription	Brain Cingulate Gyrus	brain
3	chr16:76590000-76598600	Weak transcription	Brain Hippocampus Middle	brain
4	chr16:76598600-76598800	Enhancers	Brain Hippocampus Middle	brain
5	chr16:76599400-76599600	Enhancers	Brain Cingulate Gyrus	brain
6	chr16:76599400-76599600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr16:76599400-76599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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