Variant report

Variant	esv20883
Chromosome Location	chr16:82165333-82165807
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8046093	chr16:82165335-82165336	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs559335627	chr16:82165340-82165341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73589675	chr16:82165363-82165364	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs146801348	chr16:82165375-82165376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562998579	chr16:82165398-82165399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs8052512	chr16:82165406-82165407	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs181802688	chr16:82165418-82165419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527752832	chr16:82165423-82165424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565257993	chr16:82165441-82165442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs35199622	chr16:82165458-82165459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs8048180	chr16:82165459-82165460	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs566103370	chr16:82165485-82165486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186404776	chr16:82165489-82165490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs189578138	chr16:82165558-82165559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570133080	chr16:82165562-82165563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537267083	chr16:82165565-82165566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558818217	chr16:82165569-82165570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576950133	chr16:82165570-82165571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs8047857	chr16:82165577-82165578	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs552990719	chr16:82165587-82165588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs180949088	chr16:82165594-82165595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs8047878	chr16:82165621-82165622	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs8046621	chr16:82165631-82165632	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs538435832	chr16:82165634-82165635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115439988	chr16:82165662-82165663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546974861	chr16:82165668-82165669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552321986	chr16:82165697-82165698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs113062910	chr16:82165707-82165708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs56949747	chr16:82165732-82165733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs8048065	chr16:82165746-82165747	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs532585248	chr16:82165769-82165770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548113462	chr16:82165779-82165780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559747173	chr16:82165780-82165781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs60881236	chr16:82165785-82165786	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs374636625	chr16:82165786-82165787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139286185	chr16:82165790-82165791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs10643257	chr16:82165791-82165792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs386385244	chr16:82165792-82165793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397703139	chr16:82165796-82165797	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	chr16:82164000-82169000	Weak transcription	HepG2	liver
14	chr16:82164200-82179400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr16:82165800-82179200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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