Variant report

Variant	nsv9462
Chromosome Location	chr16:76265127-76291750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr16:76266652-76266909	H1-hESC	embryonic stem cell:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
2	CEBPB	chr16:76266739-76266878	K562	blood:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
3	CEBPB	chr16:76266660-76266961	HepG2	liver:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
4	CEBPB	chr16:76276619-76276914	HepG2	liver:	n/a	chr16:76276751-76276762
5	CEBPB	chr16:76266667-76266981	IMR90	lung:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
6	CEBPB	chr16:76266695-76266926	A549	lung:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
7	E2F4	chr16:76276713-76276959	MCF10A-Er-Src	breast:	n/a	n/a
8	FOXA2	chr16:76288729-76289045	A549	lung:	n/a	n/a
9	JUN	chr16:76278777-76279058	HepG2	liver:	n/a	chr16:76278894-76278907 chr16:76278895-76278904
10	JUND	chr16:76278802-76279074	HepG2	liver:	n/a	chr16:76278895-76278904
11	MAFF	chr16:76266623-76266925	K562	blood:	n/a	chr16:76266780-76266798
12	MAFF	chr16:76280510-76280831	HepG2	liver:	n/a	chr16:76280670-76280688
13	MAFF	chr16:76277534-76277901	HepG2	liver:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
14	MAFF	chr16:76266605-76266963	HepG2	liver:	n/a	chr16:76266780-76266798
15	MAFF	chr16:76277560-76277872	K562	blood:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
16	MAFF	chr16:76268363-76268489	HepG2	liver:	n/a	n/a
17	MAFF	chr16:76280641-76280735	K562	blood:	n/a	chr16:76280670-76280688
18	MAFK	chr16:76280538-76280833	IMR90	lung:	n/a	chr16:76280671-76280686
19	MAFK	chr16:76277532-76277897	IMR90	lung:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
20	MAFK	chr16:76277558-76277873	Hela-S3	cervix:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
21	MAFK	chr16:76280506-76280836	HepG2	liver:	n/a	chr16:76280671-76280686
22	MAFK	chr16:76280566-76280786	K562	blood:	n/a	chr16:76280671-76280686
23	MAFK	chr16:76268298-76268433	HepG2	liver:	n/a	chr16:76268373-76268387 chr16:76268375-76268386
24	MAFK	chr16:76266608-76266969	HepG2	liver:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
25	MAFK	chr16:76277548-76277862	K562	blood:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
26	MAFK	chr16:76290521-76290586	HepG2	liver:	n/a	n/a
27	MAFK	chr16:76280510-76280850	HepG2	liver:	n/a	chr16:76280671-76280686
28	MAFK	chr16:76277549-76278089	H1-hESC	embryonic stem cell:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
29	MAFK	chr16:76266628-76266947	Hela-S3	cervix:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
30	MAFK	chr16:76268279-76268496	HepG2	liver:	n/a	chr16:76268373-76268387 chr16:76268375-76268386
31	MAFK	chr16:76277530-76277901	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
32	MAFK	chr16:76266618-76266951	IMR90	lung:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
33	MAFK	chr16:76266604-76266961	HepG2	liver:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
34	MAFK	chr16:76277532-76277889	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
35	MAFK	chr16:76291517-76291614	HepG2	liver:	n/a	n/a
36	MAFK	chr16:76266652-76266915	K562	blood:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
37	MYC	chr16:76271594-76271642	MCF-7	breast:	n/a	n/a
38	MYC	chr16:76268999-76269228	MCF-7	breast:	n/a	n/a
39	MYC	chr16:76269096-76269254	MCF-7	breast:	n/a	n/a
40	POLR2A	chr16:76268069-76268245	MCF-7	breast:	n/a	n/a
41	POLR2A	chr16:76278609-76278686	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr16:76280422-76280531	MCF10A-Er-Src	breast:	n/a	n/a
43	POLR2A	chr16:76269115-76269188	A549	lung:	n/a	n/a
44	POLR2A	chr16:76268527-76268540	MCF10A-Er-Src	breast:	n/a	n/a
45	POLR2A	chr16:76272068-76272152	MCF-7	breast:	n/a	n/a
46	POLR2A	chr16:76276569-76276620	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr16:76269043-76269512	MCF-7	breast:	n/a	n/a
48	POLR2A	chr16:76268978-76269329	MCF-7	breast:	n/a	n/a
49	RAD21	chr16:76275754-76276105	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr16:76275824-76276073	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76268785-76268835	SKMC	muscle:	n/a
2	chr16:76268785-76268835	SKMC	muscle:	n/a
3	chr16:76269297-76269347	Jurkat	blood:	n/a
4	chr16:76269297-76269347	HCF	heart:	n/a
5	chr16:76269184-76269234	NHDF-neo	bronchial:	n/a
6	chr16:76269409-76269459	AoSMC	blood vessel:	n/a
7	chr16:76269192-76269242	PANC-1	pancreas:	n/a
8	chr16:76266534-76266584	HMEC	breast:	n/a
9	chr16:76268785-76268835	HCPEpiC	choroid plexus:	n/a
10	chr16:76269043-76269093	MCF-7	breast:	n/a
11	chr16:76269297-76269347	PFSK-1	brain:	n/a
12	chr16:76268785-76268835	PANC-1	pancreas:	n/a
13	chr16:76269184-76269234	RPTEC	kidney:	n/a
14	chr16:76269409-76269459	AG04450	lung:	fetal
15	chr16:76269297-76269347	Hela-S3	cervix:	n/a
16	chr16:76268785-76268835	Hela-S3	cervix:	n/a
17	chr16:76268785-76268835	Caco-2	colon:	n/a
18	chr16:76272351-76272401	ECC-1	luminal epithelium:	n/a
19	chr16:76269409-76269459	HRPEpiC	eye:	n/a
20	chr16:76272351-76272401	IMR90	lung:	fetal
21	chr16:76268785-76268835	U87	brain:	n/a
22	chr16:76266534-76266584	NH-A	brain:	n/a
23	chr16:76272351-76272401	HepG2	liver:	n/a
24	chr16:76268785-76268835	HCT-116	colon:	n/a
25	chr16:76266534-76266584	Hela-S3	cervix:	n/a
26	chr16:76269297-76269347	ovcar-3	ovarian:	n/a
27	chr16:76269297-76269347	SKMC	muscle:	n/a
28	chr16:76266534-76266584	AG04450	lung:	fetal
29	chr16:76266534-76266584	ovcar-3	ovarian:	n/a
30	chr16:76269192-76269242	HCF	heart:	n/a
31	chr16:76268785-76268835	HPAEpiC	pulmonary alveolar:	n/a
32	chr16:76269192-76269242	ECC-1	luminal epithelium:	n/a
33	chr16:76268785-76268835	AG04450	lung:	fetal
34	chr16:76268785-76268835	HRCEpiC	kidney:	n/a
35	chr16:76272351-76272401	GM12878	blood:	n/a
36	chr16:76269043-76269093	PrEC	prostate:	n/a
37	chr16:76268785-76268835	SK-N-SH_RA	brain:	n/a
38	chr16:76269184-76269234	HNPCEpiC	eye:	n/a
39	chr16:76268785-76268835	NHBE	bronchial:	n/a
40	chr16:76272351-76272401	NHDF-neo	bronchial:	n/a
41	chr16:76269297-76269347	BJ	skin:	n/a
42	chr16:76272351-76272401	HL-60	blood:	n/a
43	chr16:76269043-76269093	ECC-1	luminal epithelium:	n/a
44	chr16:76269184-76269234	MCF-7	breast:	n/a
45	chr16:76269297-76269347	SK-N-SH	brain:	n/a
46	chr16:76269184-76269234	HCF	heart:	n/a
47	chr16:76272351-76272401	NB4	blood:	n/a
48	chr16:76269409-76269459	T-47D	breast:	n/a
49	chr16:76269043-76269093	HIPEpiC	eye:	n/a
50	chr16:76269192-76269242	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:76272213..76274617-chr16:76275881..76278722,3	MCF-7	breast:
2	chr16:76264260..76266317-chr16:76268267..76270250,2	MCF-7	breast:
3	chr16:76267035..76268706-chr16:76269783..76271539,2	K562	blood:
4	chr16:76272213..76274617-chr16:76275881..76278722,3	MCF-7	breast:
5	chr16:76267035..76268706-chr16:76269783..76271539,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-3	chr16:76268585-76269326	NONHSAT143776
2	lnc-AC025287.1-3	chr16:76268953-76269521	NONHSAT143777
3	lnc-AC025287.1-3	chr16:76265215-76265343	ENSG00000260983.1

Variant related genes	Relation type
RPL18P13	TF binding region
RPL18P13	CpG island
ENSG00000244485	chromatin interactions

Extended variants
information (count: 433 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187614578	chr16:76265127-76265128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs138265207	chr16:76265154-76265155	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142768282	chr16:76265163-76265164	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs145140706	chr16:76265209-76265210	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372224170	chr16:76265214-76265215	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs553351734	chr16:76265222-76265223	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs114480215	chr16:76265235-76265236	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs139025853	chr16:76265238-76265239	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs537223820	chr16:76265253-76265254	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
10	rs4888488	chr16:76265282-76265283	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs207476169	chr16:76265293-76265294	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs562205607	chr16:76265307-76265308	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
13	rs192640929	chr16:76265314-76265315	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs77265881	chr16:76265323-76265324	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs556231400	chr16:76265329-76265330	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs369880286	chr16:76265342-76265343	Weak transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs74024945	chr16:76265348-76265349	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs182194484	chr16:76265382-76265383	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs139875023	chr16:76265406-76265407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs555560628	chr16:76265422-76265423	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs112555527	chr16:76265431-76265432	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369571372	chr16:76265462-76265463	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs572137230	chr16:76265486-76265487	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186796550	chr16:76265487-76265488	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs8062647	chr16:76265488-76265489	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs577762939	chr16:76265495-76265496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544086901	chr16:76265561-76265562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192354956	chr16:76265586-76265587	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs529469279	chr16:76265589-76265590	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs549281804	chr16:76265637-76265638	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs144802475	chr16:76265706-76265707	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs564663360	chr16:76265707-76265708	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs528522288	chr16:76265718-76265719	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs551464372	chr16:76265719-76265720	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs570124835	chr16:76265731-76265732	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs571304384	chr16:76265783-76265784	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs537089291	chr16:76265791-76265792	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs550031821	chr16:76265797-76265798	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376927783	chr16:76265816-76265817	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs184688416	chr16:76265866-76265867	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs8062073	chr16:76265886-76265887	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs555561148	chr16:76265918-76265919	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376766216	chr16:76265950-76265951	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs189662802	chr16:76265955-76265956	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370596527	chr16:76266009-76266010	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs534706964	chr16:76266026-76266027	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs193037154	chr16:76266032-76266033	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs13329808	chr16:76266034-76266035	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs372936356	chr16:76266066-76266067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs11859087	chr16:76266074-76266075	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76262800-76269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:76266400-76266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr16:76266400-76267200	Enhancers	Adipose Nuclei	Adipose
4	chr16:76266600-76267200	Enhancers	Liver	Liver
5	chr16:76269000-76269400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr16:76269400-76272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr16:76274600-76274800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr16:76275400-76275800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:76290600-76291400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr16:76291400-76291600	Enhancers	Gastric	stomach

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