Variant report

Variant	nsv573303
Chromosome Location	chr16:80951306-80989859
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:44)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:44 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
2	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
3	chr16:80971664..80972208-chr5:172197924..172198691,2	Hela-S3	cervix:
4	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
5	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
6	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
7	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
8	chr16:80958448..80959493-chr16:81068829..81069710,4	MCF-7	breast:
9	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
10	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
11	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
12	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
13	chr16:80972216..80972916-chr2:233414689..233415240,2	Hela-S3	cervix:
14	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
15	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
16	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
17	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
18	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
19	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
20	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
21	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
22	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
23	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
24	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
25	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
26	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
27	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
28	chr15:52970973..52971687-chr16:80951115..80952002,2	MCF-7	breast:
29	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
30	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
31	chr16:80957863..80959236-chr16:81068742..81069783,11	MCF-7	breast:
32	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
33	chr16:80957573..80958407-chr16:81248225..81248964,2	MCF-7	breast:
34	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
35	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
36	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
37	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
38	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
39	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
40	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
41	chr16:80971923..80972641-chr7:44835938..44836577,2	Hela-S3	cervix:
42	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
43	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
44	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000166454	chromatin interactions
ENSG00000120129	chromatin interactions
ENSG00000166451	chromatin interactions
ENSG00000047346	chromatin interactions
ENSG00000260213	chromatin interactions
ENSG00000168589	chromatin interactions
ENSG00000196262	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000259867	chromatin interactions
ENSG00000103121	chromatin interactions
ENSG00000221944	chromatin interactions

Extended variants
information (count: 2112 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2112 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7198978	chr16:80951306-80951307	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs566619035	chr16:80951326-80951327	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147178194	chr16:80951327-80951328	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs186304367	chr16:80951328-80951329	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs574012208	chr16:80951351-80951352	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs115193912	chr16:80951359-80951360	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs34477597	chr16:80951369-80951370	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs191146138	chr16:80951376-80951377	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs80206313	chr16:80951384-80951385	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs55735411	chr16:80951387-80951388	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567607438	chr16:80951405-80951406	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs575781364	chr16:80951407-80951408	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs573358640	chr16:80951421-80951422	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs140404112	chr16:80951444-80951445	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs115061053	chr16:80951466-80951467	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs529585687	chr16:80951487-80951488	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs550159788	chr16:80951520-80951521	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs182648747	chr16:80951530-80951531	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs532797499	chr16:80951541-80951542	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs551419511	chr16:80951558-80951559	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78422076	chr16:80951566-80951567	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs144263030	chr16:80951597-80951598	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs75932168	chr16:80951601-80951602	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567556124	chr16:80951635-80951636	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs8062598	chr16:80951638-80951639	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs556508047	chr16:80951640-80951641	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs575560810	chr16:80951663-80951664	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs8061946	chr16:80951667-80951668	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs558210628	chr16:80951695-80951696	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs534418432	chr16:80951769-80951770	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs562439101	chr16:80951778-80951779	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78430079	chr16:80951780-80951781	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs370019093	chr16:80951811-80951812	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs540421045	chr16:80951836-80951837	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs186652231	chr16:80951841-80951842	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs145821373	chr16:80951851-80951852	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs544461145	chr16:80951855-80951856	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs563052527	chr16:80951898-80951899	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs12935143	chr16:80951908-80951909	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs111630077	chr16:80951911-80951912	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs183218052	chr16:80951916-80951917	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370283041	chr16:80951917-80951918	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs574347448	chr16:80951919-80951920	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549195012	chr16:80951926-80951927	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs187672099	chr16:80951936-80951937	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs372555685	chr16:80951937-80951938	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs538055240	chr16:80951979-80951980	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12325015	chr16:80951984-80951985	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571478984	chr16:80951989-80951990	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs74816178	chr16:80952000-80952001	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:571 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80951600-80951800	Enhancers	H1 Cell Line	embryonic stem cell
2	chr16:80951600-80951800	Enhancers	H9 Cell Line	embryonic stem cell
3	chr16:80951600-80952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:80951600-80952000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:80951600-80952200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr16:80951600-80952600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr16:80951600-80952800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr16:80951600-80952800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr16:80951600-80952800	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:80951800-80952400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:80952000-80952400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr16:80952400-80952600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr16:80952400-80952600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr16:80952400-80953400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr16:80952600-80957000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:80953400-80965600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr16:80957000-80957200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:80957200-80965600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr16:80957800-80958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:80958000-80958800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr16:80958000-80959000	Enhancers	Hela-S3	cervix
22	chr16:80958200-80958400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr16:80958200-80958600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr16:80958200-80958800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr16:80958200-80958800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr16:80958200-80958800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:80958200-80958800	Enhancers	HepG2	liver
28	chr16:80958400-80958600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr16:80958400-80958800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr16:80958400-80958800	Enhancers	Brain Hippocampus Middle	brain
31	chr16:80958400-80961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:80958600-80958800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:80958600-80958800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr16:80958800-80965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:80959000-80963000	Weak transcription	Hela-S3	cervix
36	chr16:80961200-80961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:80961200-80965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr16:80961400-80964400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:80961600-80962200	Enhancers	Esophagus	oesophagus
40	chr16:80962200-80965600	Weak transcription	HepG2	liver
41	chr16:80962200-80965800	Weak transcription	Esophagus	oesophagus
42	chr16:80963000-80963400	ZNF genes & repeats	Hela-S3	cervix
43	chr16:80963400-80963800	Weak transcription	Hela-S3	cervix
44	chr16:80963800-80964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr16:80963800-80964400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr16:80963800-80964600	Enhancers	Hela-S3	cervix
47	chr16:80964200-80964400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr16:80964200-80964400	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr16:80964400-80964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr16:80964400-80965600	Weak transcription	Brain Inferior Temporal Lobe	brain

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