Variant report

Variant	nsv9450
Chromosome Location	chr16:58846210-58848206
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553723324	chr16:58846242-58846243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571982995	chr16:58846262-58846263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536314260	chr16:58846277-58846278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77174463	chr16:58846329-58846330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs147660641	chr16:58846365-58846366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs11645316	chr16:58846398-58846399	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs34147672	chr16:58846410-58846411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386384824	chr16:58846412-58846413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141114302	chr16:58846437-58846438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563117312	chr16:58846441-58846442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs372253793	chr16:58846490-58846491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375067735	chr16:58846495-58846496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560521895	chr16:58846497-58846498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs527699625	chr16:58846552-58846553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191240914	chr16:58846571-58846572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561226587	chr16:58846633-58846634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533626901	chr16:58846637-58846638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181517804	chr16:58846659-58846660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs146371781	chr16:58846669-58846670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200460208	chr16:58846671-58846672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549554683	chr16:58846728-58846729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369272936	chr16:58846782-58846783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185896592	chr16:58846807-58846808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs11076272	chr16:58846851-58846852	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs532259809	chr16:58846857-58846858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369874800	chr16:58846913-58846914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs191191711	chr16:58846935-58846936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs118129865	chr16:58846956-58846957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554609574	chr16:58846984-58846985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs150267708	chr16:58846994-58846995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs537191574	chr16:58847037-58847038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs556775187	chr16:58847063-58847064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539415449	chr16:58847064-58847065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs578233147	chr16:58847093-58847094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377156215	chr16:58847119-58847120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11076273	chr16:58847120-58847121	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs373069355	chr16:58847187-58847188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs11641090	chr16:58847217-58847218	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs149403108	chr16:58847225-58847226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183226981	chr16:58847229-58847230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534145802	chr16:58847302-58847303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555266146	chr16:58847313-58847314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs145748083	chr16:58847315-58847316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs186279988	chr16:58847326-58847327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs190350238	chr16:58847327-58847328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs182946260	chr16:58847334-58847335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs538363296	chr16:58847354-58847355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs137941643	chr16:58847357-58847358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs544790729	chr16:58847366-58847367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372129095	chr16:58847378-58847379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Acute lymphoblastic leukemia	21339820	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian cancer	21720365	CNVD
Leiomyosarcoma	16982739	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Autism	20972252	CNVD
Invasive breast cancer	20972252	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58843600-58847800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr16:58843600-58848400	Weak transcription	NHEK	skin
3	chr16:58844400-58848400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr16:58847400-58847600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr16:58847800-58848400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr16:58848000-58848200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:58848000-58848400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr16:58848000-58848400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr16:58848000-58848400	Enhancers	K562	blood
10	chr16:58848200-58848400	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr16:58848200-58848400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr16:58848200-58848400	Active TSS	Primary hematopoietic stem cells	blood
13	chr16:58848200-58848400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr16:58848200-58848400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:58848200-58848400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr16:58848200-58848400	Enhancers	Fetal Brain Female	brain
17	chr16:58848200-58848400	Enhancers	HMEC	breast
18	chr16:58848200-58848400	Active TSS	Monocytes-CD14+_RO01746	blood
19	chr16:58848200-58848400	Enhancers	Osteobl	bone
20	chr16:58848200-58848600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr16:58848200-58848600	Active TSS	Primary T cells from cord blood	blood
22	chr16:58848200-58848800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr16:58848200-58848800	Active TSS	Stomach Smooth Muscle	stomach

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