Variant report

Variant	nsv1059725
Chromosome Location	chr16:80891331-80910831
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:30)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:30 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:80902859-80902964	K562	blood:	n/a	n/a
2	BACH1	chr16:80907272-80907341	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr16:80908811-80909220	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr16:80894316-80894350	GM20000	blood:	n/a	n/a
5	CTCF	chr16:80894255-80894289	LNCaP	prostate:	n/a	n/a
6	CTCF	chr16:80894179-80894261	ProgFib	skin:	n/a	n/a
7	EP300	chr16:80908850-80909192	Hela-S3	cervix:	n/a	chr16:80909147-80909157
8	IRF1	chr16:80899287-80899325	K562	blood:	n/a	n/a
9	JUN	chr16:80906098-80906237	K562	blood:	n/a	n/a
10	MAFK	chr16:80905188-80905336	HepG2	liver:	n/a	n/a
11	POLR2A	chr16:80895686-80895743	MCF-7	breast:	n/a	n/a
12	POLR2A	chr16:80909997-80910021	A549	lung:	n/a	n/a
13	POLR2A	chr16:80899891-80899921	MCF-7	breast:	n/a	n/a
14	POLR2A	chr16:80895950-80895957	MCF10A-Er-Src	breast:	n/a	n/a
15	POLR2A	chr16:80909680-80909781	Gliobla	brain:	n/a	n/a
16	POLR2A	chr16:80909811-80909836	Gliobla	brain:	n/a	n/a
17	POLR2A	chr16:80909844-80909995	A549	lung:	n/a	n/a
18	POLR2A	chr16:80903332-80903355	MCF-7	breast:	n/a	n/a
19	POLR2A	chr16:80909927-80909973	Gliobla	brain:	n/a	n/a
20	POLR2A	chr16:80905546-80905592	Gliobla	brain:	n/a	n/a
21	POLR2A	chr16:80909800-80909806	Gliobla	brain:	n/a	n/a
22	SETDB1	chr16:80898794-80899256	U2OS	brain:	n/a	n/a
23	SPI1	chr16:80896242-80896583	GM12891	blood:	n/a	n/a
24	SPI1	chr16:80896296-80896535	GM12891	blood:	n/a	n/a
25	SPI1	chr16:80891239-80891452	K562	blood:	n/a	n/a
26	SPI1	chr16:80891267-80891441	K562	blood:	n/a	n/a
27	STAT3	chr16:80907833-80908033	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF7L2	chr16:80909087-80909152	Hela-S3	cervix:	n/a	n/a
29	USF2	chr16:80909916-80909970	HepG2	liver:	n/a	n/a
30	ZNF384	chr16:80895707-80895712	K562	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:80910057..80913120-chr16:80916062..80918233,3	MCF-7	breast:
2	chr16:80905485..80908093-chr16:80908287..80911810,3	K562	blood:
3	chr16:80897559..80901306-chr16:80907284..80910371,3	MCF-7	breast:
4	chr16:80905485..80908093-chr16:80908287..80911810,3	K562	blood:
5	chr16:80890324..80891930-chr16:80892520..80894497,2	MCF-7	breast:
6	chr16:80890324..80891930-chr16:80892520..80894497,2	MCF-7	breast:
7	chr16:80903251..80907289-chr16:80908287..80911628,3	K562	blood:
8	chr16:80909329..80911458-chr16:80945639..80947612,2	MCF-7	breast:
9	chr16:80897559..80901306-chr16:80907284..80910371,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CDYL2-4	chr16:80904345-80904417	ENSG00000260896.1

No data

Variant related genes	Relation type
ENSG00000260896	TF binding region
ENSG00000260896	chromatin interactions

Extended variants
information (count: 230 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:230 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573052427	chr16:80896030-80896031	Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs2580278	chr16:80896031-80896032	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs562233051	chr16:80896044-80896045	Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs529636918	chr16:80896046-80896047	Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs543837841	chr16:80896062-80896063	Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs74871482	chr16:80896073-80896074	Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs532976395	chr16:80896095-80896096	Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs551475213	chr16:80896123-80896124	Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs74028804	chr16:80896171-80896172	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs181787334	chr16:80896201-80896202	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs549202710	chr16:80896204-80896205	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs567445989	chr16:80896215-80896216	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs538169737	chr16:80896217-80896218	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs553333004	chr16:80896222-80896223	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs142051953	chr16:80896247-80896248	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568883203	chr16:80896262-80896263	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs539450227	chr16:80896270-80896271	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs116396316	chr16:80896301-80896302	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs74379220	chr16:80896321-80896322	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs573039915	chr16:80896330-80896331	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs147807956	chr16:80896373-80896374	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs555952316	chr16:80896377-80896378	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs574233584	chr16:80896384-80896385	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs531026363	chr16:80896398-80896399	Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs13337921	chr16:80896407-80896408	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs530277217	chr16:80896416-80896417	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs72822828	chr16:80896443-80896444	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs12444664	chr16:80896463-80896464	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs566072184	chr16:80896475-80896476	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs560280527	chr16:80896498-80896499	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs72822829	chr16:80896504-80896505	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs551783009	chr16:80896542-80896543	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs12448298	chr16:80896565-80896566	Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs112989438	chr16:80896570-80896571	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs369609376	chr16:80896580-80896581	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs571166246	chr16:80896582-80896583	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs560110121	chr16:80896584-80896585	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539436156	chr16:80896598-80896599	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs550807892	chr16:80896599-80896600	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557775727	chr16:80896600-80896601	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74028805	chr16:80896608-80896609	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs113240004	chr16:80896613-80896614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs146945387	chr16:80896645-80896646	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs138485334	chr16:80896646-80896647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111777455	chr16:80896649-80896650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs573589603	chr16:80896687-80896688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs544486118	chr16:80896696-80896697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs542486481	chr16:80896714-80896715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs555583449	chr16:80896744-80896745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs553696927	chr16:80896763-80896764	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80896000-80896200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:80896200-80896400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:80896200-80896400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:80896200-80896400	Flanking Active TSS	Fetal Lung	lung
5	chr16:80896200-80896600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr16:80896200-80896600	Active TSS	Brain Hippocampus Middle	brain
7	chr16:80896200-80896600	Enhancers	Pancreas	Pancrea
8	chr16:80896200-80896600	Enhancers	Sigmoid Colon	Sigmoid Colon
9	chr16:80896400-80896800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr16:80908400-80909600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr16:80908600-80909400	Enhancers	Hela-S3	cervix
12	chr16:80908800-80909800	Enhancers	Fetal Lung	lung
13	chr16:80908800-80910200	Enhancers	Pancreas	Pancrea
14	chr16:80909400-80909600	Enhancers	Liver	Liver
15	chr16:80909400-80910800	Weak transcription	Hela-S3	cervix
16	chr16:80909600-80910000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr16:80909600-80910000	Active TSS	Adipose Nuclei	Adipose
18	chr16:80909600-80910000	Flanking Active TSS	Liver	Liver
19	chr16:80909600-80910000	Active TSS	Duodenum Mucosa	Duodenum
20	chr16:80909600-80910000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr16:80909600-80910000	Enhancers	Right Ventricle	heart
22	chr16:80909600-80910000	Bivalent/Poised TSS	NHDF-Ad	bronchial
23	chr16:80909600-80910200	Enhancers	Gastric	stomach
24	chr16:80909800-80910000	Flanking Bivalent TSS/Enh	Left Ventricle	heart
25	chr16:80909800-80910000	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr16:80909800-80910000	Bivalent Enhancer	Small Intestine	intestine
27	chr16:80909800-80910200	Enhancers	Lung	lung
28	chr16:80909800-80910200	Enhancers	Right Atrium	heart
29	chr16:80910000-80910200	Bivalent Enhancer	Aorta	Aorta
30	chr16:80910000-80910200	Bivalent Enhancer	Left Ventricle	heart
31	chr16:80910000-80910400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr16:80910200-80916800	Weak transcription	Gastric	stomach
33	chr16:80910800-80911000	Enhancers	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links