Variant report

Variant	esv3524113
Chromosome Location	chr16:72385001-72386899
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:72 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150789653	chr16:72385035-72385036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs375960409	chr16:72385124-72385125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572119012	chr16:72385169-72385170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs530312378	chr16:72385188-72385189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540663049	chr16:72385196-72385197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190464948	chr16:72385230-72385231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560986027	chr16:72385250-72385251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs138274160	chr16:72385270-72385271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs530672123	chr16:72385275-72385276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs149204995	chr16:72385392-72385393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111668772	chr16:72385434-72385435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs185902178	chr16:72385440-72385441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546576635	chr16:72385463-72385464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75812161	chr16:72385491-72385492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs16970852	chr16:72385503-72385504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs190659320	chr16:72385515-72385516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550833542	chr16:72385534-72385535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs543741501	chr16:72385557-72385558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537581506	chr16:72385584-72385585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563656263	chr16:72385605-72385606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs75193652	chr16:72385613-72385614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs11639798	chr16:72385631-72385632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200461399	chr16:72385641-72385642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534718173	chr16:72385663-72385664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201749372	chr16:72385694-72385695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552904730	chr16:72385737-72385738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs182871949	chr16:72385818-72385819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373084028	chr16:72385839-72385840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs557168873	chr16:72385853-72385854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575768386	chr16:72385871-72385872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113469333	chr16:72385897-72385898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560827327	chr16:72385903-72385904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572847102	chr16:72385933-72385934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540276882	chr16:72386001-72386002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77275383	chr16:72386006-72386007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs76720003	chr16:72386008-72386009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs564864922	chr16:72386012-72386013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs148386078	chr16:72386016-72386017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550870455	chr16:72386035-72386036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562774969	chr16:72386036-72386037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs529864280	chr16:72386041-72386042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528631717	chr16:72386051-72386052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548264544	chr16:72386083-72386084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552397878	chr16:72386086-72386087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567658496	chr16:72386139-72386140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376268657	chr16:72386148-72386149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs374877622	chr16:72386169-72386170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185579568	chr16:72386201-72386202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191292388	chr16:72386205-72386206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs571294155	chr16:72386226-72386227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72367200-72389200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:72367200-72405000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:72367200-72423600	Weak transcription	Thymus	Thymus
4	chr16:72370200-72399600	Weak transcription	Primary B cells from cord blood	blood

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