Variant report

Variant	nsv519663
Chromosome Location	chr16:48479935-48489387
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:51)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:51 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr16:48481532-48481564	HepG2	liver:	n/a	n/a
2	BHLHE40	chr16:48480444-48480631	K562	blood:	n/a	n/a
3	CEBPB	chr16:48487505-48487553	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr16:48484333-48484564	IMR90	lung:	n/a	n/a
5	CHD2	chr16:48487339-48487654	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr16:48481840-48481990	HepG2	liver:	n/a	chr16:48481924-48481932
7	CTCF	chr16:48483120-48483270	K562	blood:	n/a	n/a
8	CTCF	chr16:48483015-48483195	K562	blood:	n/a	n/a
9	CTCF	chr16:48481960-48482110	GM12871	blood:	n/a	n/a
10	CTCF	chr16:48481980-48482130	HepG2	liver:	n/a	n/a
11	CTCF	chr16:48484418-48484499	IMR90	lung:	n/a	n/a
12	EP300	chr16:48482026-48482268	HepG2	liver:	n/a	chr16:48482085-48482095
13	EP300	chr16:48481885-48482325	HepG2	liver:	n/a	chr16:48482085-48482095
14	FOXA1	chr16:48481735-48482325	HepG2	liver:	n/a	n/a
15	FOXA1	chr16:48481722-48482398	HepG2	liver:	n/a	n/a
16	FOXA1	chr16:48481750-48482348	HepG2	liver:	n/a	n/a
17	FOXA1	chr16:48481758-48482284	HepG2	liver:	n/a	n/a
18	FOXA2	chr16:48481804-48482298	HepG2	liver:	n/a	n/a
19	GTF2F1	chr16:48487541-48487544	Hela-S3	cervix:	n/a	n/a
20	HDAC2	chr16:48481799-48482267	HepG2	liver:	n/a	chr16:48482086-48482095 chr16:48481860-48481879
21	HNF4A	chr16:48481864-48482261	HepG2	liver:	n/a	n/a
22	HNF4A	chr16:48481879-48482305	HepG2	liver:	n/a	n/a
23	HNF4G	chr16:48481844-48482189	HepG2	liver:	n/a	n/a
24	JUND	chr16:48482000-48482289	HepG2	liver:	n/a	n/a
25	MAFF	chr16:48481927-48482039	HepG2	liver:	n/a	n/a
26	MAFK	chr16:48481879-48482102	HepG2	liver:	n/a	n/a
27	MAX	chr16:48487394-48487657	Hela-S3	cervix:	n/a	n/a
28	MAX	chr16:48481959-48481997	HepG2	liver:	n/a	n/a
29	MAZ	chr16:48487525-48487647	Hela-S3	cervix:	n/a	n/a
30	MAZ	chr16:48482011-48482055	HepG2	liver:	n/a	n/a
31	MBD4	chr16:48481797-48482272	HepG2	liver:	n/a	n/a
32	MYBL2	chr16:48481753-48482345	HepG2	liver:	n/a	n/a
33	MYBL2	chr16:48481841-48482378	HepG2	liver:	n/a	n/a
34	MYC	chr16:48482249-48482264	MCF-7	breast:	n/a	n/a
35	NFIC	chr16:48481833-48482256	HepG2	liver:	n/a	n/a
36	PAX5	chr16:48488938-48489127	GM12878	blood:	n/a	n/a
37	RAD21	chr16:48481935-48482150	HepG2	liver:	n/a	n/a
38	RAD21	chr16:48487327-48487497	Hela-S3	cervix:	n/a	n/a
39	RCOR1	chr16:48487444-48487607	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr16:48479799-48480002	K562	blood:	n/a	n/a
41	RFX5	chr16:48487454-48487618	Hela-S3	cervix:	n/a	n/a
42	RFX5	chr16:48482142-48482263	HepG2	liver:	n/a	n/a
43	SMC3	chr16:48487344-48487701	Hela-S3	cervix:	n/a	n/a
44	SMC3	chr16:48481968-48482231	HepG2	liver:	n/a	n/a
45	SP1	chr16:48481825-48482362	HepG2	liver:	n/a	n/a
46	TBP	chr16:48487322-48487652	Hela-S3	cervix:	n/a	n/a
47	TBP	chr16:48482085-48482114	HepG2	liver:	n/a	n/a
48	TCF7L2	chr16:48487329-48487689	Hela-S3	cervix:	n/a	n/a
49	YY1	chr16:48481938-48482426	HepG2	liver:	n/a	n/a
50	ZKSCAN1	chr16:48487551-48487559	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:48486381..48489610-chr16:48544436..48547308,3	MCF-7	breast:
2	chr16:48486870..48489852-chr16:48492927..48494661,2	K562	blood:
3	chr16:48481663..48485159-chr16:48487604..48489866,3	K562	blood:
4	chr16:48418689..48421082-chr16:48483560..48485517,2	K562	blood:
5	chr16:48486159..48488343-chr6:151814873..151817312,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-N4BP1-1	chr16:48481815-48481992	ENSG00000261802.1
2	lnc-N4BP1-1	chr16:48482180-48482309	ENSG00000261802.1

No data

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000261802	TF binding region
ENSG00000120262	chromatin interactions
ENSG00000196470	chromatin interactions
ENSG00000261802	chromatin interactions

Extended variants
information (count: 373 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:373 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11076566	chr16:48479935-48479936	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535814035	chr16:48479958-48479959	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs150715677	chr16:48479967-48479968	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs572363371	chr16:48479972-48479973	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs139427118	chr16:48480007-48480008	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs185725161	chr16:48480023-48480024	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs576557081	chr16:48480043-48480044	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs200079542	chr16:48480094-48480095	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs375044405	chr16:48480107-48480108	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs149634640	chr16:48480131-48480132	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs11076567	chr16:48480140-48480141	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs553573555	chr16:48480144-48480145	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs144375398	chr16:48480273-48480274	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs114900446	chr16:48480326-48480327	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs561976062	chr16:48480332-48480333	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs373161232	chr16:48480340-48480341	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs188761267	chr16:48480366-48480367	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs140936794	chr16:48480401-48480402	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs541815332	chr16:48480402-48480403	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs575001488	chr16:48480409-48480410	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs564453245	chr16:48480454-48480455	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs533300209	chr16:48480475-48480476	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs117791983	chr16:48480522-48480523	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs144776796	chr16:48480523-48480524	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs536056204	chr16:48480550-48480551	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs549275871	chr16:48480618-48480619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192290266	chr16:48480644-48480645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183963643	chr16:48480719-48480720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188687864	chr16:48480751-48480752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs180817717	chr16:48480766-48480767	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs576418658	chr16:48480767-48480768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371117603	chr16:48480771-48480772	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs539203343	chr16:48480781-48480782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556224317	chr16:48480822-48480823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs7196268	chr16:48480855-48480856	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576017479	chr16:48480895-48480896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185851954	chr16:48480908-48480909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116489088	chr16:48480967-48480968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs572398885	chr16:48481036-48481037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs541318269	chr16:48481078-48481079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs564514035	chr16:48481166-48481167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527643904	chr16:48481201-48481202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs375410061	chr16:48481202-48481203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs578206263	chr16:48481204-48481205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs139886214	chr16:48481217-48481218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201496742	chr16:48481218-48481219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58875872	chr16:48481219-48481220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs375913483	chr16:48481221-48481222	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs202070863	chr16:48481222-48481223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs370562165	chr16:48481223-48481224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Wilms tumour	21544195	CNVD
Cancer	20164920	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	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
Renal cell carcinoma	18765545	CNVD
Sudden cardiac death	19188705	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21364760	CNVD
Ewing''s sarcoma	17952124	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Bladder cancer	21909424	CNVD
Colorectal cancer	19359472	CNVD
Olfactory neuroblastoma	18408657	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Disease	22140031	CNVD
Non-syndromic sensorineural hearing loss	22140031	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48466400-48487200	Weak transcription	Right Ventricle	heart
2	chr16:48475800-48480600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr16:48478400-48480200	Enhancers	Lung	lung
4	chr16:48478400-48480400	Enhancers	Placenta	Placenta
5	chr16:48478400-48480800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr16:48479200-48480400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr16:48479200-48480400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:48479200-48481400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr16:48479400-48480200	Weak transcription	Fetal Kidney	kidney
10	chr16:48479400-48480400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr16:48479400-48480400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr16:48479400-48480400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr16:48479400-48480400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr16:48479400-48480400	Weak transcription	Brain Hippocampus Middle	brain
15	chr16:48479400-48480400	Weak transcription	Fetal Muscle Leg	muscle
16	chr16:48479400-48480600	Enhancers	NH-A	brain
17	chr16:48479400-48481000	Enhancers	Hela-S3	cervix
18	chr16:48479400-48481200	Weak transcription	A549	lung
19	chr16:48479400-48484200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr16:48479400-48484400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr16:48479400-48484400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr16:48479400-48484400	Weak transcription	Osteobl	bone
23	chr16:48479400-48484600	Weak transcription	HMEC	breast
24	chr16:48479400-48484600	Weak transcription	NHLF	lung
25	chr16:48479600-48480400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:48479600-48486800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr16:48479800-48480600	Bivalent Enhancer	HepG2	liver
28	chr16:48480400-48480600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr16:48480400-48480600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr16:48480400-48480600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr16:48480400-48480600	Enhancers	Brain Hippocampus Middle	brain
32	chr16:48480400-48480600	Enhancers	Fetal Kidney	kidney
33	chr16:48480400-48480600	Enhancers	Fetal Muscle Leg	muscle
34	chr16:48480400-48480800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr16:48480400-48480800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:48480400-48480800	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr16:48480400-48481000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr16:48480600-48481400	Enhancers	HepG2	liver
39	chr16:48480600-48481800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr16:48480800-48481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr16:48480800-48484600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr16:48481400-48482400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:48481400-48482400	Flanking Active TSS	HepG2	liver
44	chr16:48481800-48482000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:48481800-48482400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr16:48482200-48482400	Enhancers	Lung	lung
47	chr16:48482400-48483200	Enhancers	HepG2	liver
48	chr16:48482400-48484400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr16:48484200-48485200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr16:48484400-48484800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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