Variant report

Variant	nsv907004
Chromosome Location	chr16:80958442-81001915
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:45)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:45 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80972216..80972916-chr2:233414689..233415240,2	Hela-S3	cervix:
2	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
3	chr16:80971923..80972641-chr7:44835938..44836577,2	Hela-S3	cervix:
4	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
5	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
6	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
7	chr16:80958108..80959131-chr16:80982466..80983464,4	K562	blood:
8	chr16:80955353..80957123-chr16:80962871..80964572,2	K562	blood:
9	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
10	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
11	chr16:80958448..80959493-chr16:81068829..81069710,4	MCF-7	breast:
12	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
13	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
14	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
15	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
16	chr16:80966352..80966940-chr8:79864857..79865857,2	Hela-S3	cervix:
17	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
18	chr16:80957863..80959236-chr16:81068742..81069783,11	MCF-7	breast:
19	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
20	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:
21	chr16:80574553..80575421-chr16:80982567..80983067,2	MCF-7	breast:
22	chr16:80971664..80972208-chr5:172197924..172198691,2	Hela-S3	cervix:
23	chr16:80950553..80953339-chr16:80965421..80967122,2	MCF-7	breast:
24	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
25	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
26	chr16:80957926..80959047-chr16:80982446..80983244,3	MCF-7	breast:
27	chr16:80966267..80966896-chr17:41393079..41393786,2	Hela-S3	cervix:
28	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
29	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
30	chr16:81001788..81003366-chr16:81003777..81008120,3	K562	blood:
31	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
32	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
33	chr11:65272537..65273491-chr16:80966234..80966909,2	Hela-S3	cervix:
34	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
35	chr16:80965383..80968097-chr16:81038708..81041560,2	MCF-7	breast:
36	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
37	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
38	chr16:80499995..80500569-chr16:80982485..80983045,2	MCF-7	breast:
39	chr16:80958139..80959069-chr16:80982496..80983022,2	MCF-7	breast:
40	chr16:80992093..80994381-chr16:81038938..81040889,2	MCF-7	breast:
41	chr16:80992891..80995365-chr16:80995391..80997695,2	MCF-7	breast:
42	chr16:80560979..80561850-chr16:80982503..80983251,4	MCF-7	breast:
43	chr16:81000562..81002901-chr16:81037638..81039411,2	K562	blood:
44	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
45	chr16:80957146..80959233-chr16:80965352..80966876,2	MCF-7	breast:

No data

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

Extended variants
information (count: 2345 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2345 , 50 per page) page: 1 2 3 4 5 6 7 ... 47

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4888116	chr16:80958442-80958443	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs148726268	chr16:80958478-80958479	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182249316	chr16:80958487-80958488	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs575443172	chr16:80958498-80958499	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546053685	chr16:80958548-80958549	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs564468285	chr16:80958555-80958556	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs144609518	chr16:80958590-80958591	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs116992859	chr16:80958597-80958598	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs561816583	chr16:80958599-80958600	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187702964	chr16:80958600-80958601	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs529838425	chr16:80958608-80958609	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs193097461	chr16:80958647-80958648	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs185663332	chr16:80958660-80958661	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs551683033	chr16:80958678-80958679	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs560678288	chr16:80958686-80958687	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs188538032	chr16:80958699-80958700	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs192093238	chr16:80958730-80958731	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs374136291	chr16:80958762-80958763	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs184274350	chr16:80958775-80958776	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs553140241	chr16:80958867-80958868	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568445765	chr16:80958873-80958874	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs77260751	chr16:80958909-80958910	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs557444232	chr16:80958919-80958920	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs188758046	chr16:80958931-80958932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs139983310	chr16:80958953-80958954	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs558019576	chr16:80958954-80958955	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs145408318	chr16:80958962-80958963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs181122434	chr16:80959005-80959006	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs183788284	chr16:80959013-80959014	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs528895331	chr16:80959024-80959025	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs151200129	chr16:80959042-80959043	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs544472612	chr16:80959056-80959057	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs562674721	chr16:80959069-80959070	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs562034217	chr16:80959091-80959092	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs551644906	chr16:80959099-80959100	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs560465300	chr16:80959101-80959102	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs527548456	chr16:80959102-80959103	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs549270283	chr16:80959103-80959104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs377339546	chr16:80959141-80959142	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs568330009	chr16:80959154-80959155	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs113160088	chr16:80959190-80959191	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs550781325	chr16:80959212-80959213	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs569049638	chr16:80959213-80959214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs8057287	chr16:80959228-80959229	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs74365147	chr16:80959269-80959270	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs550348018	chr16:80959313-80959314	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs573109368	chr16:80959316-80959317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs534189738	chr16:80959318-80959319	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs35621149	chr16:80959319-80959320	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs573531666	chr16:80959340-80959341	Weak transcription	Chromatin interactive region	2 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:624 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

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	chr16:80957800-80958800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr16:80958000-80958800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr16:80958000-80959000	Enhancers	Hela-S3	cervix
6	chr16:80958200-80958600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr16:80958200-80958800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr16:80958200-80958800	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:80958200-80958800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:80958200-80958800	Enhancers	HepG2	liver
11	chr16:80958400-80958600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
12	chr16:80958400-80958800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:80958400-80958800	Enhancers	Brain Hippocampus Middle	brain
14	chr16:80958400-80961200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:80958600-80958800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:80958600-80958800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:80958800-80965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:80959000-80963000	Weak transcription	Hela-S3	cervix
19	chr16:80961200-80961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:80961200-80965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr16:80961400-80964400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr16:80961600-80962200	Enhancers	Esophagus	oesophagus
23	chr16:80962200-80965600	Weak transcription	HepG2	liver
24	chr16:80962200-80965800	Weak transcription	Esophagus	oesophagus
25	chr16:80963000-80963400	ZNF genes & repeats	Hela-S3	cervix
26	chr16:80963400-80963800	Weak transcription	Hela-S3	cervix
27	chr16:80963800-80964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr16:80963800-80964400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr16:80963800-80964600	Enhancers	Hela-S3	cervix
30	chr16:80964200-80964400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr16:80964200-80964400	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr16:80964400-80964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr16:80964400-80965600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr16:80964600-80965000	Flanking Active TSS	Hela-S3	cervix
35	chr16:80964800-80965000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
36	chr16:80964800-80965000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:80964800-80965000	Enhancers	Colon Smooth Muscle	Colon
38	chr16:80964800-80965400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:80964800-80965400	Enhancers	HUVEC	blood vessel
40	chr16:80965000-80965600	Weak transcription	Colon Smooth Muscle	Colon
41	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
42	chr16:80965400-80965600	Enhancers	Muscle Satellite Cultured Cells	--
43	chr16:80965400-80965600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:80965400-80965600	Enhancers	Adipose Nuclei	Adipose
45	chr16:80965400-80965600	Enhancers	Liver	Liver
46	chr16:80965400-80965600	Enhancers	Brain Angular Gyrus	brain
47	chr16:80965400-80965600	Enhancers	Fetal Brain Male	brain
48	chr16:80965400-80965600	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr16:80965400-80965600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr16:80965400-80965600	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links