Variant report

Variant	esv2608489
Chromosome Location	chr16:75983164-75984519
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181680603	chr16:75983166-75983167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs535221312	chr16:75983191-75983192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142973401	chr16:75983197-75983198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs7185610	chr16:75983215-75983216	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs113339374	chr16:75983216-75983217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545594397	chr16:75983223-75983224	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7184298	chr16:75983233-75983234	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs138307275	chr16:75983299-75983300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs149629158	chr16:75983306-75983307	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572254968	chr16:75983354-75983355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540809401	chr16:75983378-75983379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564074181	chr16:75983415-75983416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7189193	chr16:75983457-75983458	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs543286894	chr16:75983488-75983489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563300152	chr16:75983493-75983494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528841632	chr16:75983509-75983510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549100750	chr16:75983615-75983616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369904303	chr16:75983616-75983617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528724373	chr16:75983620-75983621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551986630	chr16:75983640-75983641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs117061266	chr16:75983692-75983693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs118023102	chr16:75983693-75983694	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs373322035	chr16:75983700-75983701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs12599634	chr16:75983706-75983707	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs186838022	chr16:75983723-75983724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536249544	chr16:75983733-75983734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112192324	chr16:75983741-75983742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12599127	chr16:75983764-75983765	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs190588705	chr16:75983768-75983769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs148761406	chr16:75983780-75983781	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs142422196	chr16:75983781-75983782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs543323587	chr16:75983786-75983787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563425426	chr16:75983833-75983834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530721248	chr16:75983887-75983888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs573627082	chr16:75983918-75983919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542237158	chr16:75983954-75983955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559432563	chr16:75983973-75983974	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111523565	chr16:75984020-75984021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550802846	chr16:75984049-75984050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139891433	chr16:75984103-75984104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs115032675	chr16:75984157-75984158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565480618	chr16:75984182-75984183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531085091	chr16:75984185-75984186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77428514	chr16:75984187-75984188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370978614	chr16:75984196-75984197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114536798	chr16:75984201-75984202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536687452	chr16:75984230-75984231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143154642	chr16:75984258-75984259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566501571	chr16:75984312-75984313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538752373	chr16:75984322-75984323	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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	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
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75973200-75991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr16:75978200-75983200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:75981000-75984000	Enhancers	Brain Cingulate Gyrus	brain
4	chr16:75981200-75984000	Enhancers	Brain Hippocampus Middle	brain
5	chr16:75981200-75984000	Enhancers	Brain Substantia Nigra	brain
6	chr16:75981600-75983800	Enhancers	Brain Germinal Matrix	brain
7	chr16:75982200-75983200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr16:75982800-75983600	Enhancers	Brain Anterior Caudate	brain
9	chr16:75983000-75983600	Enhancers	Brain Angular Gyrus	brain
10	chr16:75983000-75984000	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr16:75983200-75983600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:75983200-75983800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr16:75983400-75984000	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr16:75983600-75984000	Enhancers	iPS-20b Cell Line	embryonic stem cell

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