Variant report

Variant	nsv1820
Chromosome Location	chr16:59803698-59812923
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	chr16:59802014..59804199-chr16:59814012..59816551,2	K562	blood:

Extended variants
information (count: 341 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:341 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141572321	chr16:59803703-59803704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574149642	chr16:59803756-59803757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576489336	chr16:59803764-59803765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182998887	chr16:59803818-59803819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537133962	chr16:59803862-59803863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575220317	chr16:59803966-59803967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545512266	chr16:59804005-59804006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs114438152	chr16:59804032-59804033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs543548824	chr16:59804086-59804087	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs558333109	chr16:59804107-59804108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188173614	chr16:59804119-59804120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192793491	chr16:59804125-59804126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs559989514	chr16:59804139-59804140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs182789292	chr16:59804176-59804177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375017842	chr16:59804189-59804190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs78833409	chr16:59804260-59804261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558620793	chr16:59804276-59804277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs576851725	chr16:59804322-59804323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569922754	chr16:59804356-59804357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367693143	chr16:59804376-59804377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147060203	chr16:59804387-59804388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs187450852	chr16:59804395-59804396	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs552330592	chr16:59804399-59804400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs570411313	chr16:59804402-59804403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541008171	chr16:59804453-59804454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534609001	chr16:59804483-59804484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78130303	chr16:59804508-59804509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs114340835	chr16:59804511-59804512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs373041558	chr16:59804527-59804528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs138225184	chr16:59804530-59804531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556999953	chr16:59804538-59804539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs149498070	chr16:59804587-59804588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376772788	chr16:59804607-59804608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191430850	chr16:59804627-59804628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs577563566	chr16:59804671-59804672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184782349	chr16:59804711-59804712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559950734	chr16:59804776-59804777	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs5817216	chr16:59804780-59804781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs5817217	chr16:59804782-59804783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530339742	chr16:59804787-59804788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369969548	chr16:59804808-59804809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548526691	chr16:59804811-59804812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373433862	chr16:59804827-59804828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563794098	chr16:59804837-59804838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs530954959	chr16:59804878-59804879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376974796	chr16:59804882-59804883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs552498002	chr16:59804894-59804895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570522645	chr16:59804899-59804900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2897430	chr16:59804904-59804905	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs546513117	chr16:59804929-59804930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	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
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	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
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Infertility	21528002	CNVD
Breast cancer	21806811	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Neurodevelopmental disorder	22521361	CNVD
Glioblastoma multiforme	22286061	CNVD
Autism	18414403	CNVD
Breast cancer	20409316	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
Ovarian clear cell carcinoma	21343371	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD
Breast cancer	17142309	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:59788200-59811600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr16:59807200-59807600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr16:59807600-59810400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:59811600-59811800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr16:59811600-59812200	Active TSS	Spleen	Spleen

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