Variant report

Variant	nsv1055411
Chromosome Location	chr16:80961660-80993734
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:36)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:36 , 50 per page) page: 1

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

No data

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

Extended variants
information (count: 1678 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1678 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2161295	chr16:80961660-80961661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184207463	chr16:80961668-80961669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540043793	chr16:80961721-80961722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147460087	chr16:80961736-80961737	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190706140	chr16:80961759-80961760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs62054212	chr16:80961775-80961776	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs551871479	chr16:80961791-80961792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs145473249	chr16:80961801-80961802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541989456	chr16:80961830-80961831	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4888118	chr16:80961831-80961832	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs35018598	chr16:80961836-80961837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	mRNA abundance
12	rs568304201	chr16:80961952-80961953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs564564582	chr16:80961955-80961956	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs370507087	chr16:80961957-80961958	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs554961409	chr16:80961963-80961964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576520465	chr16:80961978-80961979	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543906712	chr16:80962022-80962023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559120552	chr16:80962023-80962024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs577350399	chr16:80962038-80962039	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541301442	chr16:80962040-80962041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs181742871	chr16:80962055-80962056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530285349	chr16:80962057-80962058	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs542129221	chr16:80962060-80962061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144276005	chr16:80962064-80962065	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs528556933	chr16:80962081-80962082	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544063579	chr16:80962106-80962107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530447735	chr16:80962126-80962127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185872642	chr16:80962127-80962128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551835331	chr16:80962155-80962156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs570247591	chr16:80962163-80962164	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370332527	chr16:80962172-80962173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148465251	chr16:80962226-80962227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528279929	chr16:80962230-80962231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564043420	chr16:80962238-80962239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546526032	chr16:80962250-80962251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7195708	chr16:80962259-80962260	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535352408	chr16:80962272-80962273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs150970912	chr16:80962346-80962347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs141121099	chr16:80962347-80962348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143445455	chr16:80962355-80962356	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190476749	chr16:80962377-80962378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs541515422	chr16:80962412-80962413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371057432	chr16:80962441-80962442	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs8058672	chr16:80962462-80962463	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs542092086	chr16:80962467-80962468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140300995	chr16:80962472-80962473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs150288304	chr16:80962478-80962479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545434371	chr16:80962537-80962538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374905354	chr16:80962553-80962554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546738256	chr16:80962588-80962589	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:539 , 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	chr16:80958800-80965800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr16:80959000-80963000	Weak transcription	Hela-S3	cervix
5	chr16:80961200-80965400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:80961400-80964400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr16:80961600-80962200	Enhancers	Esophagus	oesophagus
8	chr16:80962200-80965600	Weak transcription	HepG2	liver
9	chr16:80962200-80965800	Weak transcription	Esophagus	oesophagus
10	chr16:80963000-80963400	ZNF genes & repeats	Hela-S3	cervix
11	chr16:80963400-80963800	Weak transcription	Hela-S3	cervix
12	chr16:80963800-80964200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr16:80963800-80964400	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr16:80963800-80964600	Enhancers	Hela-S3	cervix
15	chr16:80964200-80964400	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr16:80964200-80964400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:80964400-80964800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:80964400-80965600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr16:80964600-80965000	Flanking Active TSS	Hela-S3	cervix
20	chr16:80964800-80965000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr16:80964800-80965000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:80964800-80965000	Enhancers	Colon Smooth Muscle	Colon
23	chr16:80964800-80965400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr16:80964800-80965400	Enhancers	HUVEC	blood vessel
25	chr16:80965000-80965600	Weak transcription	Colon Smooth Muscle	Colon
26	chr16:80965000-80966800	Active TSS	Hela-S3	cervix
27	chr16:80965400-80965600	Enhancers	Muscle Satellite Cultured Cells	--
28	chr16:80965400-80965600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr16:80965400-80965600	Enhancers	Adipose Nuclei	Adipose
30	chr16:80965400-80965600	Enhancers	Liver	Liver
31	chr16:80965400-80965600	Enhancers	Brain Angular Gyrus	brain
32	chr16:80965400-80965600	Enhancers	Fetal Brain Male	brain
33	chr16:80965400-80965600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr16:80965400-80965600	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr16:80965400-80965600	Enhancers	NH-A	brain
36	chr16:80965400-80965600	Enhancers	Osteobl	bone
37	chr16:80965400-80966000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:80965400-80966400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:80965400-80966600	Flanking Active TSS	HUVEC	blood vessel
40	chr16:80965600-80965800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr16:80965600-80965800	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr16:80965600-80965800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
43	chr16:80965600-80965800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
44	chr16:80965600-80965800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
45	chr16:80965600-80965800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr16:80965600-80965800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr16:80965600-80965800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr16:80965600-80965800	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr16:80965600-80965800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr16:80965600-80965800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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