Variant report

Variant	nsv512441
Chromosome Location	chr16:59806023-59809231
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:149 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528606506	chr16:59806084-59806085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs540227108	chr16:59806109-59806110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561936480	chr16:59806174-59806175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146281892	chr16:59806254-59806255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550614722	chr16:59806259-59806260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs562673765	chr16:59806266-59806267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532960540	chr16:59806317-59806318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551634916	chr16:59806374-59806375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139092886	chr16:59806427-59806428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555234083	chr16:59806438-59806439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61131655	chr16:59806471-59806472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548959875	chr16:59806479-59806480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs144009960	chr16:59806504-59806505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs57875555	chr16:59806512-59806513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570199819	chr16:59806522-59806523	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537224461	chr16:59806537-59806538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577573065	chr16:59806570-59806571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557350379	chr16:59806589-59806590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs139515829	chr16:59806615-59806616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374723870	chr16:59806630-59806631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs576890674	chr16:59806670-59806671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs557972854	chr16:59806696-59806697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572952889	chr16:59806738-59806739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540336907	chr16:59806739-59806740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs113849711	chr16:59806833-59806834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186190535	chr16:59806840-59806841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562078370	chr16:59806845-59806846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs56863248	chr16:59806854-59806855	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs544621644	chr16:59806865-59806866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562625524	chr16:59806877-59806878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs190997712	chr16:59806916-59806917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs5817218	chr16:59806958-59806959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201213215	chr16:59806959-59806960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183656812	chr16:59807015-59807016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574688414	chr16:59807074-59807075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527348752	chr16:59807075-59807076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs541188204	chr16:59807090-59807091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs548828760	chr16:59807101-59807102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371401893	chr16:59807123-59807124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563607644	chr16:59807158-59807159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs150028392	chr16:59807159-59807160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145360727	chr16:59807163-59807164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs76987791	chr16:59807167-59807168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs530755172	chr16:59807176-59807177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546005498	chr16:59807180-59807181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569450152	chr16:59807184-59807185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539744634	chr16:59807217-59807218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs186929687	chr16:59807319-59807320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564186640	chr16:59807358-59807359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs59990838	chr16:59807380-59807381	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:3 , 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

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