Variant report

Variant	nsv431518
Chromosome Location	chr16:76261207-76279001
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	chr16:76266739-76266878	K562	blood:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
2	CEBPB	chr16:76266660-76266961	HepG2	liver:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
3	CEBPB	chr16:76276619-76276914	HepG2	liver:	n/a	chr16:76276751-76276762
4	CEBPB	chr16:76266667-76266981	IMR90	lung:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
5	CEBPB	chr16:76266695-76266926	A549	lung:	n/a	chr16:76266829-76266842 chr16:76266830-76266841 chr16:76266829-76266840 chr16:76266819-76266832 chr16:76266829-76266842
6	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
7	CTCF	chr16:76263161-76263202	Kidney_OC	kidney:	n/a	n/a
8	CTCF	chr16:76261160-76261310	SAEC	small airway:	n/a	n/a
9	E2F4	chr16:76276713-76276959	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr16:76262491-76262776	MCF-7	breast:	n/a	n/a
11	GATA3	chr16:76262530-76262772	T-47D	breast:	n/a	n/a
12	JUN	chr16:76278777-76279058	HepG2	liver:	n/a	chr16:76278894-76278907 chr16:76278895-76278904
13	JUND	chr16:76278802-76279074	HepG2	liver:	n/a	chr16:76278895-76278904
14	MAFF	chr16:76266605-76266963	HepG2	liver:	n/a	chr16:76266780-76266798
15	MAFF	chr16:76266623-76266925	K562	blood:	n/a	chr16:76266780-76266798
16	MAFF	chr16:76277534-76277901	HepG2	liver:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
17	MAFF	chr16:76277560-76277872	K562	blood:	n/a	chr16:76277705-76277723 chr16:76277711-76277725
18	MAFF	chr16:76268363-76268489	HepG2	liver:	n/a	n/a
19	MAFK	chr16:76266608-76266969	HepG2	liver:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
20	MAFK	chr16:76277549-76278089	H1-hESC	embryonic stem cell:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
21	MAFK	chr16:76266628-76266947	Hela-S3	cervix:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
22	MAFK	chr16:76277558-76277873	Hela-S3	cervix:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
23	MAFK	chr16:76266604-76266961	HepG2	liver:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
24	MAFK	chr16:76277530-76277901	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
25	MAFK	chr16:76277532-76277897	IMR90	lung:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
26	MAFK	chr16:76266652-76266915	K562	blood:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
27	MAFK	chr16:76268279-76268496	HepG2	liver:	n/a	chr16:76268373-76268387 chr16:76268375-76268386
28	MAFK	chr16:76277532-76277889	HepG2	liver:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
29	MAFK	chr16:76268298-76268433	HepG2	liver:	n/a	chr16:76268373-76268387 chr16:76268375-76268386
30	MAFK	chr16:76277548-76277862	K562	blood:	n/a	chr16:76277708-76277728 chr16:76277710-76277726 chr16:76277711-76277725 chr16:76277707-76277722
31	MAFK	chr16:76266618-76266951	IMR90	lung:	n/a	chr16:76266781-76266796 chr16:76266781-76266797 chr16:76266776-76266796
32	MYC	chr16:76271594-76271642	MCF-7	breast:	n/a	n/a
33	MYC	chr16:76268999-76269228	MCF-7	breast:	n/a	n/a
34	MYC	chr16:76269096-76269254	MCF-7	breast:	n/a	n/a
35	POLR2A	chr16:76268978-76269329	MCF-7	breast:	n/a	n/a
36	POLR2A	chr16:76272068-76272152	MCF-7	breast:	n/a	n/a
37	POLR2A	chr16:76269043-76269512	MCF-7	breast:	n/a	n/a
38	POLR2A	chr16:76278609-76278686	MCF10A-Er-Src	breast:	n/a	n/a
39	POLR2A	chr16:76268069-76268245	MCF-7	breast:	n/a	n/a
40	POLR2A	chr16:76268527-76268540	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr16:76269115-76269188	A549	lung:	n/a	n/a
42	POLR2A	chr16:76276569-76276620	MCF10A-Er-Src	breast:	n/a	n/a
43	RAD21	chr16:76275846-76276034	H1-hESC	embryonic stem cell:	n/a	n/a
44	RAD21	chr16:76275754-76276105	H1-hESC	embryonic stem cell:	n/a	n/a
45	RAD21	chr16:76275824-76276073	H1-hESC	embryonic stem cell:	n/a	n/a
46	RFX5	chr16:76273685-76273721	GM12878	blood:	n/a	n/a
47	RXRA	chr16:76274785-76274969	HepG2	liver:	n/a	n/a
48	STAT3	chr16:76267441-76267506	MCF10A-Er-Src	breast:	n/a	n/a
49	STAT3	chr16:76268864-76268869	MCF10A-Er-Src	breast:	n/a	n/a
50	YY1	chr16:76271429-76271728	H1-hESC	embryonic stem cell:	n/a	chr16:76271564-76271586 chr16:76271574-76271586

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:76268785-76268835	BE2_C	brain:	n/a
2	chr16:76269409-76269459	HAEpiC	amniotic membrane:	n/a
3	chr16:76268785-76268835	BE2_C	brain:	n/a
4	chr16:76269409-76269459	HAEpiC	amniotic membrane:	n/a
5	chr16:76272351-76272401	AoSMC	blood vessel:	n/a
6	chr16:76269043-76269093	HRPEpiC	eye:	n/a
7	chr16:76269192-76269242	HRPEpiC	eye:	n/a
8	chr16:76269184-76269234	Jurkat	blood:	n/a
9	chr16:76269409-76269459	AoSMC	blood vessel:	n/a
10	chr16:76269297-76269347	AG04450	lung:	fetal
11	chr16:76269192-76269242	GM06990	blood:	n/a
12	chr16:76272351-76272401	ovcar-3	ovarian:	n/a
13	chr16:76272351-76272401	HUVEC	blood vessel:	n/a
14	chr16:76269192-76269242	HAEpiC	amniotic membrane:	n/a
15	chr16:76268785-76268835	HCM	heart:	n/a
16	chr16:76269184-76269234	RPTEC	kidney:	n/a
17	chr16:76268785-76268835	A549	lung:	n/a
18	chr16:76266534-76266584	HUVEC	blood vessel:	n/a
19	chr16:76269043-76269093	T-47D	breast:	n/a
20	chr16:76269184-76269234	NB4	blood:	n/a
21	chr16:76269043-76269093	GM12891	blood:	n/a
22	chr16:76266534-76266584	HCT-116	colon:	n/a
23	chr16:76266534-76266584	HAEpiC	amniotic membrane:	n/a
24	chr16:76272351-76272401	ProgFib	skin:	n/a
25	chr16:76269043-76269093	RPTEC	kidney:	n/a
26	chr16:76266534-76266584	AG04449	skin:	fetal
27	chr16:76269184-76269234	HCT-116	colon:	n/a
28	chr16:76269192-76269242	PANC-1	pancreas:	n/a
29	chr16:76269297-76269347	Hepatocyte	liver:	n/a
30	chr16:76266534-76266584	NHBE	bronchial:	n/a
31	chr16:76269043-76269093	SAEC	small airway:	n/a
32	chr16:76272351-76272401	AG04450	lung:	fetal
33	chr16:76272351-76272401	T-47D	breast:	n/a
34	chr16:76268785-76268835	Caco-2	colon:	n/a
35	chr16:76269409-76269459	HUVEC	blood vessel:	n/a
36	chr16:76272351-76272401	HL-60	blood:	n/a
37	chr16:76269409-76269459	ECC-1	luminal epithelium:	n/a
38	chr16:76269043-76269093	NHBE	bronchial:	n/a
39	chr16:76269297-76269347	MCF-7	breast:	n/a
40	chr16:76269192-76269242	NHBE	bronchial:	n/a
41	chr16:76269409-76269459	BJ	skin:	n/a
42	chr16:76269184-76269234	HUVEC	blood vessel:	n/a
43	chr16:76266534-76266584	PANC-1	pancreas:	n/a
44	chr16:76268785-76268835	SKMC	muscle:	n/a
45	chr16:76269297-76269347	GM12878	blood:	n/a
46	chr16:76269043-76269093	HIPEpiC	eye:	n/a
47	chr16:76269043-76269093	SK-N-SH_RA	brain:	n/a
48	chr16:76269192-76269242	MCF-7	breast:	n/a
49	chr16:76269184-76269234	Hela-S3	cervix:	n/a
50	chr16:76269409-76269459	HRCEpiC	kidney:	n/a

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC025287.1-3	chr16:76268953-76269521	NONHSAT143777
2	lnc-AC025287.1-3	chr16:76262283-76262757	ENSG00000260983.1
3	lnc-AC025287.1-3	chr16:76265215-76265343	ENSG00000260983.1
4	lnc-AC025287.1-3	chr16:76268585-76269326	NONHSAT143776

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

Extended variants
information (count: 540 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:540 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16944012	chr16:76261207-76261208	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535932659	chr16:76261212-76261213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573428730	chr16:76261220-76261221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376240728	chr16:76261254-76261255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548439202	chr16:76261262-76261263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs565092703	chr16:76261264-76261265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs8055423	chr16:76261277-76261278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs199888799	chr16:76261279-76261280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs185519424	chr16:76261289-76261290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561261636	chr16:76261290-76261291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530084244	chr16:76261356-76261357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559637245	chr16:76261400-76261401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182980795	chr16:76261432-76261433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188063002	chr16:76261435-76261436	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs546650704	chr16:76261442-76261443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528538888	chr16:76261443-76261444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146122523	chr16:76261501-76261502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs140105681	chr16:76261506-76261507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs551703575	chr16:76261553-76261554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs116217236	chr16:76261574-76261575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73615439	chr16:76261580-76261581	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376934595	chr16:76261582-76261583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs141527048	chr16:76261584-76261585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568635993	chr16:76261613-76261614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536366008	chr16:76261619-76261620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs150527690	chr16:76261638-76261639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78309493	chr16:76261652-76261653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs16943988	chr16:76261676-76261677	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs551324577	chr16:76261732-76261733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs558866097	chr16:76261791-76261792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs115111587	chr16:76261801-76261802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs8059198	chr16:76261808-76261809	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs188782872	chr16:76261832-76261833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557205560	chr16:76261868-76261869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs191166656	chr16:76261879-76261880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs139819992	chr16:76261892-76261893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201730133	chr16:76261893-76261894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183668032	chr16:76261912-76261913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs532596806	chr16:76261913-76261914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551691450	chr16:76261925-76261926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188460639	chr16:76261931-76261932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552932517	chr16:76261937-76261938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139528233	chr16:76261939-76261940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs550471744	chr16:76261945-76261946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs8060784	chr16:76261952-76261953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs74671606	chr16:76262022-76262023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553081657	chr16:76262042-76262043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs566124473	chr16:76262047-76262048	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs538283908	chr16:76262049-76262050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555071408	chr16:76262050-76262051	Enhancers	n/a	n/a	Overlapped CNVs	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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76258200-76262000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr16:76262000-76262800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:76262800-76269000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr16:76263800-76265000	Enhancers	Fetal Lung	lung
5	chr16:76266400-76266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:76266400-76267200	Enhancers	Adipose Nuclei	Adipose
7	chr16:76266600-76267200	Enhancers	Liver	Liver
8	chr16:76269000-76269400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:76269400-76272000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:76274600-76274800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:76275400-76275800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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