Variant report

Variant	esv3390809
Chromosome Location	chr16:82163276-82165824
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 233 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557299612	chr16:82163290-82163291	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs572480979	chr16:82163294-82163295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117319525	chr16:82163318-82163319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6420432	chr16:82163324-82163325	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs540568128	chr16:82163333-82163334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs560779701	chr16:82163335-82163336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144804185	chr16:82163340-82163341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6420433	chr16:82163354-82163355	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs1895531	chr16:82163372-82163373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs552889062	chr16:82163384-82163385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs112279090	chr16:82163395-82163396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs528491682	chr16:82163421-82163422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113206185	chr16:82163425-82163426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568422584	chr16:82163428-82163429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575403536	chr16:82163455-82163456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs141638251	chr16:82163458-82163459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550475898	chr16:82163462-82163463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184922010	chr16:82163472-82163473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539385161	chr16:82163497-82163498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs557624637	chr16:82163511-82163512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566169453	chr16:82163527-82163528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368984041	chr16:82163537-82163538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79955249	chr16:82163548-82163549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6564980	chr16:82163554-82163555	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs555442481	chr16:82163565-82163566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs560919390	chr16:82163598-82163599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs573624758	chr16:82163606-82163607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542423088	chr16:82163623-82163624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78498798	chr16:82163631-82163632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145248591	chr16:82163639-82163640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs551760543	chr16:82163648-82163649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113513108	chr16:82163678-82163679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs546566687	chr16:82163684-82163685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571501504	chr16:82163733-82163734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564760862	chr16:82163755-82163756	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs528497100	chr16:82163762-82163763	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149130317	chr16:82163770-82163771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143244611	chr16:82163778-82163779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs8055918	chr16:82163790-82163791	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs551040554	chr16:82163799-82163800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73589649	chr16:82163812-82163813	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs532949390	chr16:82163855-82163856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs9939097	chr16:82163881-82163882	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs76105360	chr16:82163883-82163884	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190117083	chr16:82163902-82163903	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs8062616	chr16:82163963-82163964	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs567237514	chr16:82163999-82164000	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs377216122	chr16:82164005-82164006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs35370401	chr16:82164044-82164045	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs148055521	chr16:82164054-82164055	Weak transcription Enhancers	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:19 , 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	chr16:82162200-82163400	Enhancers	Dnd41	blood
12	chr16:82162800-82167400	Weak transcription	Thymus	Thymus
13	chr16:82163400-82167000	Weak transcription	Dnd41	blood
14	chr16:82163600-82163800	Enhancers	Right Atrium	heart
15	chr16:82163600-82164000	Enhancers	HepG2	liver
16	chr16:82163800-82164200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr16:82164000-82169000	Weak transcription	HepG2	liver
18	chr16:82164200-82179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr16:82165800-82179200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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