Variant report

Variant	nsv573323
Chromosome Location	chr16:80979215-80983391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
2	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
3	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
4	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
5	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
6	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
7	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
8	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
9	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000168589	chromatin interactions
ENSG00000259867	chromatin interactions

Extended variants
information (count: 200 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8043968	chr16:80979215-80979216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs567637189	chr16:80979231-80979232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs188384683	chr16:80979260-80979261	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556654652	chr16:80979261-80979262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571873784	chr16:80979281-80979282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs539266540	chr16:80979332-80979333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs149975242	chr16:80979388-80979389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572731387	chr16:80979424-80979425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs35496593	chr16:80979433-80979434	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs9652681	chr16:80979454-80979455	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530649033	chr16:80979471-80979472	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34415128	chr16:80979491-80979492	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs539878315	chr16:80979506-80979507	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553193113	chr16:80979535-80979536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs113772701	chr16:80979557-80979558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550648433	chr16:80979592-80979593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74427385	chr16:80979608-80979609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs180944725	chr16:80979616-80979617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564688464	chr16:80979617-80979618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532071209	chr16:80979637-80979638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541256695	chr16:80979641-80979642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185168134	chr16:80979677-80979678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530025447	chr16:80979680-80979681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs572871530	chr16:80979711-80979712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548151925	chr16:80979718-80979719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34486948	chr16:80979725-80979726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567673874	chr16:80979728-80979729	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191068731	chr16:80979729-80979730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531692688	chr16:80979731-80979732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145200570	chr16:80979788-80979789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571810423	chr16:80979838-80979839	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs538740637	chr16:80979876-80979877	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs377061812	chr16:80979877-80979878	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs566110371	chr16:80979903-80979904	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs370478340	chr16:80979904-80979905	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs141391133	chr16:80979905-80979906	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73586650	chr16:80979924-80979925	Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs147652108	chr16:80979929-80979930	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs530305747	chr16:80979948-80979949	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535473887	chr16:80979994-80979995	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs142153884	chr16:80980038-80980039	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs9652682	chr16:80980087-80980088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs576900701	chr16:80980098-80980099	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs9319560	chr16:80980130-80980131	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs559516273	chr16:80980142-80980143	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs186966554	chr16:80980158-80980159	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs143146418	chr16:80980167-80980168	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs563621705	chr16:80980222-80980223	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530816793	chr16:80980223-80980224	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191798630	chr16:80980228-80980229	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
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
Autism	22495311	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	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
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Autism	21865298	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	21829676	CNVD
Neuroblastoma	18923524	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Obesity	20622171	CNVD
Cancer	20164920	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80972800-80982600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80974800-80986600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr16:80979400-80979800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:80979800-80980400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr16:80980000-80980200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr16:80980200-80980600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:80980200-80981000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr16:80980400-80980600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:80980600-80981000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr16:80980600-80982000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr16:80981000-80981200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:80981000-80981800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr16:80981200-80982800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:80981200-80983000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:80981200-80983400	Enhancers	Hela-S3	cervix
16	chr16:80981400-80981800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr16:80981400-80981800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr16:80981400-80982400	Enhancers	Brain Cingulate Gyrus	brain
19	chr16:80981400-80982400	Enhancers	Brain Hippocampus Middle	brain
20	chr16:80981400-80983000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr16:80981600-80982400	Enhancers	Brain Angular Gyrus	brain
22	chr16:80981600-80983000	Enhancers	Esophagus	oesophagus
23	chr16:80981600-80983200	Enhancers	Brain Anterior Caudate	brain
24	chr16:80981600-80983200	Enhancers	Brain Substantia Nigra	brain
25	chr16:80981800-80982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr16:80981800-80982800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:80981800-80984600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr16:80982000-80982600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr16:80982000-80983200	Enhancers	HUVEC	blood vessel
30	chr16:80982200-80982400	Enhancers	Brain Inferior Temporal Lobe	brain
31	chr16:80982200-80983000	Enhancers	Stomach Mucosa	stomach
32	chr16:80982400-80982800	Flanking Active TSS	Brain Cingulate Gyrus	brain
33	chr16:80982400-80982800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr16:80982400-80982800	Enhancers	Right Ventricle	heart
35	chr16:80982400-80983000	Flanking Active TSS	Brain Hippocampus Middle	brain
36	chr16:80982400-80983200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr16:80982400-80983200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr16:80982400-80983200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr16:80982400-80983200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr16:80982600-80982800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:80982600-80983200	Enhancers	Gastric	stomach
42	chr16:80982600-80983200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr16:80982600-80983200	Enhancers	NHEK	skin
44	chr16:80982600-80983600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr16:80982800-80983000	Enhancers	Brain Cingulate Gyrus	brain
46	chr16:80982800-80983200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr16:80982800-80983200	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr16:80982800-80983200	Enhancers	Psoas Muscle	Psoas
49	chr16:80983000-80983200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr16:80983000-80983200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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