Variant report

Variant	nsv521843
Chromosome Location	chr16:12721521-12728587
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12720009..12721877-chr16:12746194..12749157,2	K562	blood:
2	chr16:12712125..12713836-chr16:12719927..12722157,2	K562	blood:
3	chr16:12714846..12717275-chr16:12723498..12725575,2	K562	blood:

Extended variants
information (count: 713 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:713 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12444643	chr16:12721521-12721522	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs568329274	chr16:12721527-12721528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7185835	chr16:12721529-12721530	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs145410556	chr16:12721537-12721538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs114750276	chr16:12721544-12721545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534732456	chr16:12721545-12721546	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554299292	chr16:12721574-12721575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs11396821	chr16:12721582-12721583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs10600417	chr16:12721583-12721584	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200057972	chr16:12721584-12721585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs201596083	chr16:12721585-12721586	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397976860	chr16:12721589-12721590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs577953687	chr16:12721603-12721604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs558759998	chr16:12721606-12721607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs543601601	chr16:12721610-12721611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184610339	chr16:12721623-12721624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116521859	chr16:12721633-12721634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs554852235	chr16:12721634-12721635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs574745562	chr16:12721645-12721646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186826525	chr16:12721646-12721647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560357215	chr16:12721650-12721651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs191244262	chr16:12721656-12721657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs151058531	chr16:12721662-12721663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562416453	chr16:12721673-12721674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs183772155	chr16:12721680-12721681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117939443	chr16:12721690-12721691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs189594857	chr16:12721691-12721692	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377496789	chr16:12721701-12721702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559204152	chr16:12721703-12721704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116359817	chr16:12721705-12721706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570686111	chr16:12721716-12721717	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs113047586	chr16:12721724-12721725	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552656430	chr16:12721725-12721726	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs80229491	chr16:12721733-12721734	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538241985	chr16:12721739-12721740	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10563674	chr16:12721759-12721760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs372717946	chr16:12721764-12721765	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554590843	chr16:12721765-12721766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574484529	chr16:12721781-12721782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs114001704	chr16:12721793-12721794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112126924	chr16:12721817-12721818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs117586749	chr16:12721822-12721823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs149718116	chr16:12721828-12721829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs73520102	chr16:12721836-12721837	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs185369782	chr16:12721841-12721842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575773399	chr16:12721847-12721848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs372989357	chr16:12721848-12721849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs550894673	chr16:12721852-12721853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs140373159	chr16:12721856-12721857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561699339	chr16:12721867-12721868	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Breast cancer	17603634	CNVD
Hodgkin''s lymphoma	20651079	CNVD
Metanephric adenoma	20802469	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung adenocarcinoma	17086460	CNVD
Lung cancer	17086460	CNVD
Autism	22566537	CNVD
Intellectual disability	22566537	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Cervical cancer	21063398	CNVD
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
Lung cancer	18438408	CNVD
Ductal carcinoma	22052326	CNVD
Breast cancer	21509527	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22102821	CNVD
Autism	22495311	CNVD
idiopathic generalized epilepsy	19843651	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Intellectual disability	22102821	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Prostate cancer	18632612	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	19786961	CNVD
Mental retardation	19786961	CNVD
Schizophrenia	19786961	CNVD
Mental retardation	19951919	CNVD
Autism	18791038	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Malignant germ cell tumour	17285132	CNVD
Autism	17480035	CNVD
Schizophrenia	19955444	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	17847001	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12721200-12723600	Enhancers	A549	lung
2	chr16:12721800-12723200	Enhancers	HUVEC	blood vessel
3	chr16:12722200-12723000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:12723600-12724400	Enhancers	HepG2	liver
5	chr16:12724400-12734800	Weak transcription	HepG2	liver
6	chr16:12724800-12725000	Bivalent Enhancer	Fetal Muscle Trunk	muscle

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