Variant report

Variant	esv3367907
Chromosome Location	chr16:73980551-73982399
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 97 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573588701	chr16:73980556-73980557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117479585	chr16:73980566-73980567	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs547357871	chr16:73980633-73980634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs145275287	chr16:73980643-73980644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527955019	chr16:73980663-73980664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs188545340	chr16:73980674-73980675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564646998	chr16:73980718-73980719	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560776215	chr16:73980722-73980723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531889933	chr16:73980734-73980735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs550240327	chr16:73980821-73980822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs568422346	chr16:73980864-73980865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs529291842	chr16:73980873-73980874	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576251317	chr16:73980887-73980888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375956946	chr16:73980910-73980911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs78757365	chr16:73980915-73980916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs541790956	chr16:73980977-73980978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs12051297	chr16:73981007-73981008	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs181005549	chr16:73981018-73981019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371713021	chr16:73981047-73981048	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374996847	chr16:73981076-73981077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183657038	chr16:73981089-73981090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs189275381	chr16:73981112-73981113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs369127793	chr16:73981114-73981115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375119584	chr16:73981136-73981137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552989172	chr16:73981145-73981146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572803388	chr16:73981148-73981149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569418585	chr16:73981162-73981163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546515473	chr16:73981175-73981176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141305646	chr16:73981176-73981177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369634564	chr16:73981181-73981182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576721118	chr16:73981196-73981197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs373129680	chr16:73981249-73981250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576801248	chr16:73981250-73981251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573353330	chr16:73981253-73981254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs398119495	chr16:73981262-73981263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543605073	chr16:73981272-73981273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200493612	chr16:73981273-73981274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4350596	chr16:73981283-73981284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182214900	chr16:73981284-73981285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4603585	chr16:73981285-73981286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs72140184	chr16:73981286-73981287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9708717	chr16:73981295-73981296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs71374589	chr16:73981296-73981297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71156192	chr16:73981298-73981299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4999794	chr16:73981299-73981300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12921447	chr16:73981301-73981302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529338567	chr16:73981328-73981329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12918082	chr16:73981329-73981330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12921463	chr16:73981331-73981332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559301912	chr16:73981339-73981340	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
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Cancer	17160897	CNVD
Breast cancer	20409316	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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73979400-73980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr16:73979400-73981000	Enhancers	Brain Germinal Matrix	brain
3	chr16:73980000-73981000	Enhancers	Fetal Stomach	stomach
4	chr16:73980800-73981000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr16:73981000-73981600	Weak transcription	Fetal Stomach	stomach
6	chr16:73981000-73985600	Weak transcription	Brain Germinal Matrix	brain
7	chr16:73981600-73981800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr16:73981600-73981800	Enhancers	Fetal Muscle Leg	muscle
9	chr16:73981600-73982000	Enhancers	Fetal Lung	lung
10	chr16:73981600-73986600	Enhancers	Fetal Stomach	stomach
11	chr16:73982000-73983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr16:73982000-73983200	Weak transcription	Fetal Muscle Leg	muscle
13	chr16:73982000-73983400	Weak transcription	Fetal Lung	lung

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