Variant report

Variant	esv2520813
Chromosome Location	chr16:72745998-72747371
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:58 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536712676	chr16:72746022-72746023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138289447	chr16:72746073-72746074	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573407296	chr16:72746082-72746083	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs76084112	chr16:72746087-72746088	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs77249473	chr16:72746100-72746101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs577022622	chr16:72746118-72746119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs11866370	chr16:72746153-72746154	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs544191801	chr16:72746188-72746189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs562472904	chr16:72746226-72746227	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs369145010	chr16:72746265-72746266	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs180974190	chr16:72746268-72746269	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs541453704	chr16:72746277-72746278	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs183562911	chr16:72746295-72746296	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs527431441	chr16:72746306-72746307	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs189511269	chr16:72746315-72746316	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs571756953	chr16:72746371-72746372	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs112878076	chr16:72746381-72746382	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs79271910	chr16:72746421-72746422	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562458473	chr16:72746430-72746431	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111714946	chr16:72746431-72746432	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs982799	chr16:72746464-72746465	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs536631035	chr16:72746504-72746505	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1429432	chr16:72746527-72746528	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs371042251	chr16:72746536-72746537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141905604	chr16:72746541-72746542	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs76820891	chr16:72746609-72746610	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552070337	chr16:72746614-72746615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs186982134	chr16:72746628-72746629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs147405973	chr16:72746653-72746654	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs576982022	chr16:72746664-72746665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs544468303	chr16:72746673-72746674	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs556162334	chr16:72746698-72746699	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs11644566	chr16:72746751-72746752	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs541416613	chr16:72746794-72746795	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs138900537	chr16:72746833-72746834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527343408	chr16:72746883-72746884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs149396006	chr16:72746884-72746885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs191466948	chr16:72746935-72746936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181446605	chr16:72746942-72746943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557694897	chr16:72746955-72746956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs532572873	chr16:72746977-72746978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551186627	chr16:72747000-72747001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569560847	chr16:72747030-72747031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8047827	chr16:72747057-72747058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530462398	chr16:72747101-72747102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs8047850	chr16:72747102-72747103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs185830351	chr16:72747117-72747118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112870014	chr16:72747140-72747141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113416404	chr16:72747144-72747145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534267342	chr16:72747180-72747181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72740200-72748400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr16:72745200-72746600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
3	chr16:72745400-72746000	ZNF genes & repeats	Primary B cells from cord blood	blood
4	chr16:72745400-72746800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:72746000-72749600	Weak transcription	Primary B cells from cord blood	blood
6	chr16:72746000-72752000	Weak transcription	Fetal Intestine Large	intestine
7	chr16:72746400-72748200	Weak transcription	Ovary	ovary
8	chr16:72746400-72749400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:72746400-72760800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr16:72746600-72750400	Weak transcription	Thymus	Thymus
11	chr16:72746600-72755400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr16:72746800-72749000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:72747200-72749400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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