Variant report

Variant	esv3412001
Chromosome Location	chr16:81278019-81282337
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81279093..81281040-chr16:81292310..81294888,2	MCF-7	breast:
2	chr16:81264245..81265836-chr16:81282203..81285157,2	K562	blood:

Extended variants
information (count: 254 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557545868	chr16:81278031-81278032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185676148	chr16:81278043-81278044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78149802	chr16:81278044-81278045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150427946	chr16:81278052-81278053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77485389	chr16:81278054-81278055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544093969	chr16:81278113-81278114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs562492825	chr16:81278137-81278138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs6564860	chr16:81278138-81278139	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570347858	chr16:81278188-81278189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6564861	chr16:81278228-81278229	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs190038163	chr16:81278235-81278236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528610388	chr16:81278239-81278240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80003223	chr16:81278240-81278241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs6564862	chr16:81278265-81278266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs78851412	chr16:81278266-81278267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551293640	chr16:81278301-81278302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs78466938	chr16:81278311-81278312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs528345091	chr16:81278322-81278323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572061756	chr16:81278323-81278324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs55904406	chr16:81278341-81278342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs200217369	chr16:81278342-81278343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201490182	chr16:81278343-81278344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs539627603	chr16:81278356-81278357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149134879	chr16:81278357-81278358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs180789780	chr16:81278372-81278373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs34388820	chr16:81278376-81278377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs533887662	chr16:81278420-81278421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555045654	chr16:81278463-81278464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555085907	chr16:81278465-81278466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs186543398	chr16:81278475-81278476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191098253	chr16:81278499-81278500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556026338	chr16:81278505-81278506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577532261	chr16:81278511-81278512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs111333529	chr16:81278518-81278519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377189814	chr16:81278520-81278521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117791873	chr16:81278525-81278526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs113373892	chr16:81278526-81278527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574867660	chr16:81278527-81278528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs112795522	chr16:81278547-81278548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs28680248	chr16:81278561-81278562	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs62054702	chr16:81278566-81278567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs28543000	chr16:81278570-81278571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs28445158	chr16:81278618-81278619	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs533697147	chr16:81278620-81278621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551633860	chr16:81278621-81278622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372746478	chr16:81278636-81278637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs377179690	chr16:81278669-81278670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567062100	chr16:81278671-81278672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112296127	chr16:81278684-81278685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376142589	chr16:81278711-81278712	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
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81272600-81286400	Weak transcription	Right Atrium	heart
2	chr16:81273600-81299400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr16:81274200-81282400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr16:81277200-81278200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr16:81277800-81295800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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