Variant report

Variant	esv3313083
Chromosome Location	chr16:82164107-82164574
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 80 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573432734	chr16:82164112-82164113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs540640056	chr16:82164115-82164116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs386793030	chr16:82164139-82164140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs9939292	chr16:82164141-82164142	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs544337962	chr16:82164145-82164146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs187207215	chr16:82164157-82164158	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs532961296	chr16:82164181-82164182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141142939	chr16:82164184-82164185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs71146062	chr16:82164191-82164192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs147997406	chr16:82164196-82164197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200433797	chr16:82164204-82164205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560411871	chr16:82164206-82164207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568844532	chr16:82164209-82164210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs9940801	chr16:82164227-82164228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs549237542	chr16:82164228-82164229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567197152	chr16:82164229-82164230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62044184	chr16:82164234-82164235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537839583	chr16:82164236-82164237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12922234	chr16:82164244-82164245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549912553	chr16:82164252-82164253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12918301	chr16:82164253-82164254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs62044185	chr16:82164254-82164255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571317884	chr16:82164256-82164257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs62044186	chr16:82164257-82164258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540061275	chr16:82164260-82164261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs578018078	chr16:82164266-82164267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201041756	chr16:82164267-82164268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs62044187	chr16:82164268-82164269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62044188	chr16:82164273-82164274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62044189	chr16:82164275-82164276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200095945	chr16:82164289-82164290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs201182541	chr16:82164297-82164298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs202195647	chr16:82164298-82164299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200295645	chr16:82164301-82164302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs557668985	chr16:82164302-82164303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs141755147	chr16:82164307-82164308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376388866	chr16:82164308-82164309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534256156	chr16:82164314-82164315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs117775990	chr16:82164321-82164322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200473156	chr16:82164326-82164327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190919089	chr16:82164327-82164328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201403696	chr16:82164332-82164333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150738028	chr16:82164336-82164337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137991472	chr16:82164337-82164338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs149453708	chr16:82164340-82164341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182003625	chr16:82164342-82164343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562660015	chr16:82164348-82164349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577689871	chr16:82164353-82164354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200200929	chr16:82164361-82164362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185055514	chr16:82164362-82164363	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16461572	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:82157000-82191200	Weak transcription	Fetal Brain Male	brain
2	chr16:82160200-82172200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr16:82160800-82170600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr16:82160800-82171600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr16:82160800-82171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:82160800-82172200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr16:82160800-82172200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr16:82161000-82172000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:82161000-82172000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr16:82161200-82170200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:82162800-82167400	Weak transcription	Thymus	Thymus
12	chr16:82163400-82167000	Weak transcription	Dnd41	blood
13	chr16:82163800-82164200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr16:82164000-82169000	Weak transcription	HepG2	liver
15	chr16:82164200-82179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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