Variant report

Variant	nsv571479
Chromosome Location	chr16:12719799-12733267
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 1201 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1201 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11075132	chr16:12719799-12719800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs534502027	chr16:12719807-12719808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11643640	chr16:12719816-12719817	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs540560623	chr16:12719823-12719824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs147890105	chr16:12719832-12719833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539901652	chr16:12719847-12719848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs556711823	chr16:12719857-12719858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183102386	chr16:12719879-12719880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545955528	chr16:12719901-12719902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576478169	chr16:12719905-12719906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550337524	chr16:12719910-12719911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs116246077	chr16:12719922-12719923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547967060	chr16:12719930-12719931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370908556	chr16:12719932-12719933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568080151	chr16:12719942-12719943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527268662	chr16:12719951-12719952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs547733614	chr16:12719954-12719955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs375458090	chr16:12719955-12719956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs368795336	chr16:12719956-12719957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs76542720	chr16:12719968-12719969	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs187398932	chr16:12719972-12719973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs76774234	chr16:12719976-12719977	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191882337	chr16:12719989-12719990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569745735	chr16:12719993-12719994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs538378690	chr16:12719995-12719996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145448365	chr16:12719998-12719999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs542274464	chr16:12720002-12720003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs562230981	chr16:12720008-12720009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554063256	chr16:12720009-12720010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577084956	chr16:12720010-12720011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112234937	chr16:12720015-12720016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545992340	chr16:12720021-12720022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185165178	chr16:12720029-12720030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs531795439	chr16:12720048-12720049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59912173	chr16:12720049-12720050	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs117328944	chr16:12720055-12720056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs530943390	chr16:12720056-12720057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564653403	chr16:12720059-12720060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs547376458	chr16:12720061-12720062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570761560	chr16:12720068-12720069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs57435935	chr16:12720071-12720072	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs550089690	chr16:12720073-12720074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs569867815	chr16:12720074-12720075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188437333	chr16:12720077-12720078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144985080	chr16:12720079-12720080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568428510	chr16:12720083-12720084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533943987	chr16:12720084-12720085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs56058304	chr16:12720093-12720094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs386789185	chr16:12720100-12720101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12448911	chr16:12720102-12720103	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12708600-12719800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr16:12719800-12720000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:12720000-12720200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:12720200-12720600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:12720600-12721000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:12721200-12723600	Enhancers	A549	lung
7	chr16:12721800-12723200	Enhancers	HUVEC	blood vessel
8	chr16:12722200-12723000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:12723600-12724400	Enhancers	HepG2	liver
10	chr16:12724400-12734800	Weak transcription	HepG2	liver
11	chr16:12724800-12725000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr16:12730800-12731200	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr16:12730800-12731200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:12730800-12731400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr16:12730800-12731400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr16:12731000-12731200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr16:12731000-12733400	Enhancers	Placenta	Placenta
18	chr16:12732600-12733400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr16:12732800-12733000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr16:12732800-12733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr16:12733200-12733400	Enhancers	Osteobl	bone

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