Variant report

Variant	nsv521097
Chromosome Location	chr16:72001136-72002308
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	chr16:72001943..72003668-chr16:72042372..72044249,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102967	chromatin interactions

Extended variants
information (count: 64 )
Associated
traits (count: 66 )

Variant overlapped rSNPs/rCNVs (count:64 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4788587	chr16:72001136-72001137	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs574186947	chr16:72001143-72001144	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535220054	chr16:72001159-72001160	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553706725	chr16:72001169-72001170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571981037	chr16:72001185-72001186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs545798058	chr16:72001192-72001193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564195756	chr16:72001230-72001231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs9928364	chr16:72001258-72001259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs191545635	chr16:72001281-72001282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561902115	chr16:72001307-72001308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530212569	chr16:72001324-72001325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs7205150	chr16:72001325-72001326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560653530	chr16:72001339-72001340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187889490	chr16:72001407-72001408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140967747	chr16:72001414-72001415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs571017409	chr16:72001508-72001509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192759035	chr16:72001513-72001514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183505962	chr16:72001514-72001515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568344793	chr16:72001520-72001521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs117844066	chr16:72001521-72001522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs553551600	chr16:72001554-72001555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187783266	chr16:72001555-72001556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs192298680	chr16:72001599-72001600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375632998	chr16:72001607-72001608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12708922	chr16:72001629-72001630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs8046644	chr16:72001632-72001633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs75869947	chr16:72001644-72001645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34450247	chr16:72001653-72001654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs555577370	chr16:72001716-72001717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573849218	chr16:72001731-72001732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184689720	chr16:72001752-72001753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372982461	chr16:72001762-72001763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200352668	chr16:72001797-72001798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201602319	chr16:72001822-72001823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs202207513	chr16:72001831-72001832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369308650	chr16:72001837-72001838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200249336	chr16:72001838-72001839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375865515	chr16:72001847-72001848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370229281	chr16:72001852-72001853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs372942015	chr16:72001871-72001872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs527796437	chr16:72001889-72001890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143395486	chr16:72001894-72001895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs202205397	chr16:72001906-72001907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs377069156	chr16:72001909-72001910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201048620	chr16:72001921-72001922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564186534	chr16:72001926-72001927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9930930	chr16:72001971-72001972	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs146747655	chr16:72001984-72001985	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs568430170	chr16:72001997-72001998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs140436291	chr16:72002042-72002043	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:66)

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
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71999600-72010600	Weak transcription	Liver	Liver
2	chr16:71999800-72003200	Weak transcription	HepG2	liver
3	chr16:72000400-72001200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:72001000-72001200	Enhancers	Brain Hippocampus Middle	brain
5	chr16:72001000-72001200	Enhancers	Brain Inferior Temporal Lobe	brain

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