Variant report

Variant	nsv573305
Chromosome Location	chr16:80970327-80981776
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80973582..80976574-chr16:80983484..80985266,2	K562	blood:
2	chr16:80964917..80968271-chr16:80970129..80973008,4	MCF-7	breast:
3	chr16:80963937..80967554-chr16:80967751..80972204,4	K562	blood:
4	chr16:80971664..80972208-chr5:172197924..172198691,2	Hela-S3	cervix:
5	chr16:80979777..80982254-chr16:80984998..80987038,2	K562	blood:
6	chr16:80968298..80970184-chr16:80971509..80973894,2	MCF-7	breast:
7	chr16:80961678..80963208-chr16:80969222..80970955,2	K562	blood:
8	chr16:80978995..80982254-chr16:80984617..80987394,4	K562	blood:
9	chr16:80968184..80971104-chr16:80981792..80984555,2	MCF-7	breast:
10	chr16:80971923..80972641-chr7:44835938..44836577,2	Hela-S3	cervix:
11	chr16:80968024..80970225-chr16:80971979..80973585,2	K562	blood:
12	chr16:80972216..80972916-chr2:233414689..233415240,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000196262	chromatin interactions
ENSG00000221944	chromatin interactions
ENSG00000135930	chromatin interactions
ENSG00000120129	chromatin interactions

Extended variants
information (count: 590 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:590 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7188127	chr16:80970327-80970328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs529742050	chr16:80970331-80970332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs187152570	chr16:80970338-80970339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs191535194	chr16:80970370-80970371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs7190214	chr16:80970371-80970372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs7195085	chr16:80970378-80970379	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs74028869	chr16:80970383-80970384	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs149694629	chr16:80970401-80970402	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554305585	chr16:80970428-80970429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572528770	chr16:80970446-80970447	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs34699654	chr16:80970469-80970470	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs183395357	chr16:80970517-80970518	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7190571	chr16:80970555-80970556	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs118031100	chr16:80970563-80970564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs368846300	chr16:80970630-80970631	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs36058396	chr16:80970640-80970641	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543740346	chr16:80970661-80970662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs16954332	chr16:80970682-80970683	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs186915441	chr16:80970698-80970699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375868635	chr16:80970717-80970718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370507526	chr16:80970746-80970747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530084840	chr16:80970767-80970768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147339469	chr16:80970794-80970795	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139448032	chr16:80970801-80970802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550183550	chr16:80970806-80970807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563702742	chr16:80970875-80970876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs547901944	chr16:80970903-80970904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555528388	chr16:80970905-80970906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563318069	chr16:80970911-80970912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs145067278	chr16:80970920-80970921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16954334	chr16:80970950-80970951	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs189995456	chr16:80970951-80970952	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs552487329	chr16:80971013-80971014	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147740228	chr16:80971020-80971021	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547775972	chr16:80971021-80971022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559881254	chr16:80971024-80971025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs536718500	chr16:80971031-80971032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs555078590	chr16:80971041-80971042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182250274	chr16:80971054-80971055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149224722	chr16:80971095-80971096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs537694429	chr16:80971096-80971097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558884985	chr16:80971098-80971099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73586639	chr16:80971100-80971101	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs541341549	chr16:80971136-80971137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558893580	chr16:80971162-80971163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs142386220	chr16:80971186-80971187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs541546316	chr16:80971200-80971201	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376310832	chr16:80971214-80971215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530615744	chr16:80971276-80971277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114631788	chr16:80971287-80971288	Weak transcription 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:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80966400-80971600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:80966800-80971600	Weak transcription	Right Ventricle	heart
3	chr16:80967000-80970400	Weak transcription	NHLF	lung
4	chr16:80967000-80971000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr16:80967000-80971000	Weak transcription	Pancreas	Pancrea
6	chr16:80967000-80971000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:80967000-80971200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:80967000-80971400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr16:80967000-80971600	Weak transcription	Adipose Nuclei	Adipose
10	chr16:80967000-80971600	Weak transcription	Ovary	ovary
11	chr16:80967000-80971600	Enhancers	Hela-S3	cervix
12	chr16:80967000-80972000	Weak transcription	Aorta	Aorta
13	chr16:80967000-80972000	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr16:80967200-80971000	Weak transcription	Esophagus	oesophagus
15	chr16:80967200-80971400	Weak transcription	NHEK	skin
16	chr16:80967200-80971600	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr16:80967200-80971600	Weak transcription	Fetal Heart	heart
18	chr16:80968600-80970800	Weak transcription	NH-A	brain
19	chr16:80968600-80971600	Enhancers	HUVEC	blood vessel
20	chr16:80970000-80971600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr16:80970200-80971600	Enhancers	NHDF-Ad	bronchial
22	chr16:80970200-80972600	Enhancers	Fetal Stomach	stomach
23	chr16:80970200-80972800	Enhancers	Osteobl	bone
24	chr16:80970400-80971800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:80970400-80972200	Enhancers	NHLF	lung
26	chr16:80970400-80972400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr16:80970400-80972800	Enhancers	Fetal Muscle Leg	muscle
28	chr16:80970800-80971000	Enhancers	NH-A	brain
29	chr16:80971000-80971400	Weak transcription	NH-A	brain
30	chr16:80971000-80971600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr16:80971000-80971600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:80971000-80971800	Enhancers	Rectal Smooth Muscle	rectum
33	chr16:80971000-80972000	Enhancers	Esophagus	oesophagus
34	chr16:80971000-80972200	Enhancers	Fetal Muscle Trunk	muscle
35	chr16:80971000-80972200	Enhancers	Pancreas	Pancrea
36	chr16:80971000-80972800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr16:80971000-80973200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr16:80971200-80971800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:80971200-80972400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr16:80971400-80971600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr16:80971400-80971600	Enhancers	NH-A	brain
42	chr16:80971400-80971800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr16:80971400-80971800	Enhancers	NHEK	skin
44	chr16:80971400-80972200	Enhancers	Fetal Kidney	kidney
45	chr16:80971400-80972400	Enhancers	Colon Smooth Muscle	Colon
46	chr16:80971400-80972400	Enhancers	Stomach Smooth Muscle	stomach
47	chr16:80971400-80972800	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr16:80971600-80971800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr16:80971600-80972000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr16:80971600-80972000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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