Variant report

Variant	esv3342339
Chromosome Location	chr16:64835101-64838799
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111745149	chr16:64836410-64836411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565594126	chr16:64836490-64836491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs527847691	chr16:64836500-64836501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs188281930	chr16:64836511-64836512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144293916	chr16:64836526-64836527	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541213792	chr16:64836587-64836588	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561176142	chr16:64836618-64836619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568059574	chr16:64836652-64836653	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs62040424	chr16:64836662-64836663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559120872	chr16:64836709-64836710	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201423620	chr16:64836723-64836724	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs549855081	chr16:64836785-64836786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374054250	chr16:64836789-64836790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569501388	chr16:64836899-64836900	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532152755	chr16:64837014-64837015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs79357625	chr16:64837024-64837025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565964122	chr16:64837104-64837105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79693125	chr16:64837253-64837254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554800590	chr16:64837275-64837276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568300685	chr16:64837303-64837304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs193187170	chr16:64837341-64837342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536308964	chr16:64837344-64837345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535173095	chr16:64837424-64837425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576329885	chr16:64837444-64837445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545401089	chr16:64837445-64837446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150432963	chr16:64837451-64837452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113713350	chr16:64837484-64837485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541373771	chr16:64837493-64837494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs368274971	chr16:64837504-64837505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs561139158	chr16:64837511-64837512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370538709	chr16:64837512-64837513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376652256	chr16:64837513-64837514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200766298	chr16:64837515-64837516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530317161	chr16:64837542-64837543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543121433	chr16:64837587-64837588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138125985	chr16:64837606-64837607	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72788797	chr16:64837619-64837620	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552127509	chr16:64837637-64837638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs559436211	chr16:64837715-64837716	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563084643	chr16:64837716-64837717	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185221992	chr16:64837764-64837765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548514417	chr16:64837787-64837788	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79460095	chr16:64837835-64837836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537272750	chr16:64837928-64837929	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549973033	chr16:64837942-64837943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs570122540	chr16:64837986-64837987	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538788497	chr16:64838041-64838042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535712228	chr16:64838054-64838055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556029745	chr16:64838086-64838087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs558527474	chr16:64838120-64838121	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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	CNVD
Chordoma	18071362	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Cancer	17440070	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:64836400-64837200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr16:64837200-64842200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr16:64837600-64838000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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