Variant report

Variant	nsv1067350
Chromosome Location	chr16:80959475-80996272
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:38)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:38 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
2	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
3	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
4	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
5	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
6	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
7	chr16:80971923..80972641-chr7:44835938..44836577,2	Hela-S3	cervix:
8	chr16:80992093..80994381-chr16:81038938..81040889,2	MCF-7	breast:
9	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
10	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
11	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
12	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
13	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
14	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
15	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
16	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
17	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
18	chr16:80972216..80972916-chr2:233414689..233415240,2	Hela-S3	cervix:
19	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
20	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
21	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
22	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
23	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
24	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
25	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
26	chr16:80958448..80959493-chr16:81068829..81069710,4	MCF-7	breast:
27	chr16:80971664..80972208-chr5:172197924..172198691,2	Hela-S3	cervix:
28	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
29	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
30	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
31	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
32	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
33	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
34	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
35	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
36	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
37	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
38	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000103121	chromatin interactions
ENSG00000221944	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000168589	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000166454	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000196262	chromatin interactions

Extended variants
information (count: 1950 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1950 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7204199	chr16:80959500-80959501	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554937114	chr16:80959515-80959516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145077889	chr16:80959516-80959517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs533122116	chr16:80959535-80959536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367823731	chr16:80959580-80959581	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561264041	chr16:80959604-80959605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35375385	chr16:80959625-80959626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs189445406	chr16:80959629-80959630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550607936	chr16:80959672-80959673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs6564799	chr16:80959679-80959680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs539505520	chr16:80959692-80959693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551473600	chr16:80959710-80959711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182302905	chr16:80959721-80959722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs117299143	chr16:80959733-80959734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555772262	chr16:80959798-80959799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371693708	chr16:80959801-80959802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187337849	chr16:80959824-80959825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556149616	chr16:80959828-80959829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577724067	chr16:80959832-80959833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs559747489	chr16:80959879-80959880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116815396	chr16:80959995-80959996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74357921	chr16:80960008-80960009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs572125813	chr16:80960012-80960013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149044475	chr16:80960026-80960027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs557585349	chr16:80960066-80960067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs191712575	chr16:80960138-80960139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531586562	chr16:80960171-80960172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs543319934	chr16:80960178-80960179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562507625	chr16:80960196-80960197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533175643	chr16:80960202-80960203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs76607275	chr16:80960203-80960204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181614789	chr16:80960211-80960212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs185738301	chr16:80960216-80960217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549603321	chr16:80960295-80960296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs112851639	chr16:80960296-80960297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374584933	chr16:80960307-80960308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144605043	chr16:80960334-80960335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs556914114	chr16:80960379-80960380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545935256	chr16:80960403-80960404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538667401	chr16:80960407-80960408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs36029232	chr16:80960486-80960487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs373174836	chr16:80960487-80960488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs56166194	chr16:80960496-80960497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55841661	chr16:80960499-80960500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373967625	chr16:80960502-80960503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7205709	chr16:80960505-80960506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs35927056	chr16:80960508-80960509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34105164	chr16:80960521-80960522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553571706	chr16:80960579-80960580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559798811	chr16:80960581-80960582	Weak transcription	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:549 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80953400-80965600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr16:80957200-80965600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:80958400-80961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr16:80958800-80965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr16:80959000-80963000	Weak transcription	Hela-S3	cervix
6	chr16:80961200-80961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:80961200-80965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr16:80961400-80964400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr16:80961600-80962200	Enhancers	Esophagus	oesophagus
10	chr16:80962200-80965600	Weak transcription	HepG2	liver
11	chr16:80962200-80965800	Weak transcription	Esophagus	oesophagus
12	chr16:80963000-80963400	ZNF genes & repeats	Hela-S3	cervix
13	chr16:80963400-80963800	Weak transcription	Hela-S3	cervix
14	chr16:80963800-80964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:80963800-80964400	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr16:80963800-80964600	Enhancers	Hela-S3	cervix
17	chr16:80964200-80964400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr16:80964200-80964400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr16:80964400-80964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:80964400-80965600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr16:80964600-80965000	Flanking Active TSS	Hela-S3	cervix
22	chr16:80964800-80965000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr16:80964800-80965000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr16:80964800-80965000	Enhancers	Colon Smooth Muscle	Colon
25	chr16:80964800-80965400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr16:80964800-80965400	Enhancers	HUVEC	blood vessel
27	chr16:80965000-80965600	Weak transcription	Colon Smooth Muscle	Colon
28	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
29	chr16:80965400-80965600	Enhancers	Muscle Satellite Cultured Cells	--
30	chr16:80965400-80965600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr16:80965400-80965600	Enhancers	Adipose Nuclei	Adipose
32	chr16:80965400-80965600	Enhancers	Liver	Liver
33	chr16:80965400-80965600	Enhancers	Brain Angular Gyrus	brain
34	chr16:80965400-80965600	Enhancers	Fetal Brain Male	brain
35	chr16:80965400-80965600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr16:80965400-80965600	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr16:80965400-80965600	Enhancers	NH-A	brain
38	chr16:80965400-80965600	Enhancers	Osteobl	bone
39	chr16:80965400-80966000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
40	chr16:80965400-80966400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:80965400-80966600	Flanking Active TSS	HUVEC	blood vessel
42	chr16:80965600-80965800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:80965600-80965800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:80965600-80965800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
45	chr16:80965600-80965800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
46	chr16:80965600-80965800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr16:80965600-80965800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:80965600-80965800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr16:80965600-80965800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
50	chr16:80965600-80965800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood

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