Variant report

Variant	esv2761924
Chromosome Location	chr16:81251795-81258896
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:71)
CpG islands
(count:428)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:71 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr16:81252910-81253010	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr16:81256204-81256523	K562	blood:	n/a	n/a
3	CCNT2	chr16:81254050-81254484	K562	blood:	n/a	n/a
4	CEBPB	chr16:81254037-81254309	K562	blood:	n/a	n/a
5	CEBPB	chr16:81254034-81254299	K562	blood:	n/a	n/a
6	CEBPD	chr16:81253954-81254421	K562	blood:	n/a	n/a
7	CEBPD	chr16:81253998-81254478	K562	blood:	n/a	n/a
8	EP300	chr16:81254045-81254619	K562	blood:	n/a	n/a
9	EP300	chr16:81256270-81256471	K562	blood:	n/a	n/a
10	EP300	chr16:81257053-81257187	K562	blood:	n/a	n/a
11	GATA1	chr16:81253505-81254587	K562	blood:	n/a	chr16:81254241-81254250 chr16:81254204-81254221
12	GATA2	chr16:81254069-81254459	K562	blood:	n/a	chr16:81254241-81254250 chr16:81254204-81254221
13	IRF1	chr16:81254189-81254246	K562	blood:	n/a	n/a
14	IRF1	chr16:81256253-81256398	K562	blood:	n/a	n/a
15	JUND	chr16:81254098-81254406	K562	blood:	n/a	n/a
16	MAFF	chr16:81257017-81257167	HepG2	liver:	n/a	n/a
17	MAFF	chr16:81256297-81256458	K562	blood:	n/a	n/a
18	MAFF	chr16:81252789-81253086	K562	blood:	n/a	n/a
19	MAFF	chr16:81256950-81257221	K562	blood:	n/a	n/a
20	MAFF	chr16:81252823-81253023	HepG2	liver:	n/a	n/a
21	MAFK	chr16:81252777-81252985	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAFK	chr16:81257081-81257211	K562	blood:	n/a	n/a
23	MAFK	chr16:81252839-81253007	K562	blood:	n/a	n/a
24	MAFK	chr16:81252787-81253093	HepG2	liver:	n/a	n/a
25	MAFK	chr16:81252786-81253094	HepG2	liver:	n/a	n/a
26	MAFK	chr16:81257025-81257174	HepG2	liver:	n/a	chr16:81257048-81257057
27	MAFK	chr16:81252938-81252991	IMR90	lung:	n/a	n/a
28	MAX	chr16:81256221-81256497	K562	blood:	n/a	n/a
29	MAX	chr16:81254325-81254505	K562	blood:	n/a	n/a
30	MAZ	chr16:81256290-81256456	K562	blood:	n/a	n/a
31	MYC	chr16:81254185-81254399	K562	blood:	n/a	n/a
32	MYC	chr16:81254107-81254406	K562	blood:	n/a	n/a
33	MYC	chr16:81256290-81256455	K562	blood:	n/a	n/a
34	NR2F2	chr16:81254039-81254428	K562	blood:	n/a	n/a
35	PML	chr16:81254073-81254519	K562	blood:	n/a	n/a
36	PML	chr16:81253964-81254529	K562	blood:	n/a	n/a
37	POLR2A	chr16:81254081-81254369	K562	blood:	n/a	n/a
38	POLR2A	chr16:81253887-81254318	H1-neurons	neurons:	n/a	n/a
39	RCOR1	chr16:81252774-81253018	K562	blood:	n/a	n/a
40	RCOR1	chr16:81256321-81256520	K562	blood:	n/a	n/a
41	RCOR1	chr16:81252826-81253027	K562	blood:	n/a	n/a
42	RCOR1	chr16:81254237-81254398	K562	blood:	n/a	n/a
43	RCOR1	chr16:81253938-81254400	K562	blood:	n/a	n/a
44	REST	chr16:81258452-81258705	SK-N-SH	brain:	n/a	n/a
45	STAT5A	chr16:81254023-81254513	K562	blood:	n/a	chr16:81254396-81254404
46	TAL1	chr16:81254029-81254573	K562	blood:	n/a	n/a
47	TBL1XR1	chr16:81254109-81254399	K562	blood:	n/a	n/a
48	TCF12	chr16:81258355-81258936	SK-N-SH	brain:	n/a	n/a
49	TEAD4	chr16:81253987-81254484	K562	blood:	n/a	n/a
50	TEAD4	chr16:81253929-81254606	K562	blood:	n/a	n/a

(count:428 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:81254209-81254259	HPAEpiC	pulmonary alveolar:	n/a
2	chr16:81254209-81254259	HPAEpiC	pulmonary alveolar:	n/a
3	chr16:81254010-81254060	NT2-D1	testis:	n/a
4	chr16:81253692-81253742	SK-N-SH_RA	brain:	n/a
5	chr16:81254169-81254219	SAEC	small airway:	n/a
6	chr16:81254051-81254101	MCF-7	breast:	n/a
7	chr16:81254719-81254769	HNPCEpiC	eye:	n/a
8	chr16:81254169-81254219	BE2_C	brain:	n/a
9	chr16:81254719-81254769	Jurkat	blood:	n/a
10	chr16:81255310-81255360	NH-A	brain:	n/a
11	chr16:81254010-81254060	ovcar-3	ovarian:	n/a
12	chr16:81254209-81254259	GM06990	blood:	n/a
13	chr16:81254051-81254101	PANC-1	pancreas:	n/a
14	chr16:81253692-81253742	HCT-116	colon:	n/a
15	chr16:81254051-81254101	HRE	kidney:	n/a
16	chr16:81254051-81254101	AoSMC	blood vessel:	n/a
17	chr16:81254719-81254769	PrEC	prostate:	n/a
18	chr16:81254169-81254219	GM06990	blood:	n/a
19	chr16:81254209-81254259	HMEC	breast:	n/a
20	chr16:81254719-81254769	GM12892	blood:	n/a
21	chr16:81254209-81254259	NB4	blood:	n/a
22	chr16:81253692-81253742	CMK	blood:	n/a
23	chr16:81254719-81254769	MCF10A-Er-Src	breast:	n/a
24	chr16:81254051-81254101	HL-60	blood:	n/a
25	chr16:81255310-81255360	AoSMC	blood vessel:	n/a
26	chr16:81254209-81254259	BJ	skin:	n/a
27	chr16:81254719-81254769	NH-A	brain:	n/a
28	chr16:81255310-81255360	ProgFib	skin:	n/a
29	chr16:81254719-81254769	ProgFib	skin:	n/a
30	chr16:81254719-81254769	AG04450	lung:	fetal
31	chr16:81254719-81254769	HAEpiC	amniotic membrane:	n/a
32	chr16:81254051-81254101	HEK293	kidney:	embryo
33	chr16:81254169-81254219	K562	blood:	n/a
34	chr16:81254209-81254259	NT2-D1	testis:	n/a
35	chr16:81254719-81254769	NHDF-neo	bronchial:	n/a
36	chr16:81254209-81254259	HAEpiC	amniotic membrane:	n/a
37	chr16:81254719-81254769	Hela-S3	cervix:	n/a
38	chr16:81254209-81254259	HRCEpiC	kidney:	n/a
39	chr16:81253692-81253742	BJ	skin:	n/a
40	chr16:81254051-81254101	HCM	heart:	n/a
41	chr16:81254010-81254060	GM19239	blood:	n/a
42	chr16:81255310-81255360	HNPCEpiC	eye:	n/a
43	chr16:81253692-81253742	PrEC	prostate:	n/a
44	chr16:81254010-81254060	Caco-2	colon:	n/a
45	chr16:81254169-81254219	HIPEpiC	eye:	n/a
46	chr16:81254209-81254259	AG10803	skin:	n/a
47	chr16:81254051-81254101	GM12878	blood:	n/a
48	chr16:81254719-81254769	BE2_C	brain:	n/a
49	chr16:81255310-81255360	AG04450	lung:	fetal
50	chr16:81254010-81254060	ProgFib	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:81248661..81251389-chr16:81251410..81253409,3	K562	blood:
2	chr16:81255574..81258424-chr16:81310150..81312991,2	MCF-7	breast:
3	chr16:81257407..81259845-chr16:81262564..81264154,2	K562	blood:
4	chr16:81245699..81248674-chr16:81249555..81252970,3	MCF-7	breast:

No data

Variant related genes	Relation type
PKD1L2	TF binding region
PKD1L2	CpG island

Extended variants
information (count: 463 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:463 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7196893	chr16:81251795-81251796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577851247	chr16:81251801-81251802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568416003	chr16:81251802-81251803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535818335	chr16:81251845-81251846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7199144	chr16:81251846-81251847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs139914744	chr16:81251868-81251869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs190127529	chr16:81251869-81251870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181287176	chr16:81251911-81251912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7204310	chr16:81251915-81251916	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs376132276	chr16:81251925-81251926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540239710	chr16:81251931-81251932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76992663	chr16:81251938-81251939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs143427369	chr16:81251946-81251947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544213196	chr16:81251947-81251948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs146688697	chr16:81251953-81251954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577780987	chr16:81252009-81252010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575442654	chr16:81252015-81252016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs373215332	chr16:81252019-81252020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs140475954	chr16:81252029-81252030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs546242526	chr16:81252033-81252034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs564250081	chr16:81252040-81252041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372398986	chr16:81252055-81252056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs528422528	chr16:81252089-81252090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546584628	chr16:81252116-81252117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73593143	chr16:81252132-81252133	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs114292314	chr16:81252157-81252158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551014321	chr16:81252160-81252161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569399938	chr16:81252172-81252173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539655367	chr16:81252181-81252182	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs9928197	chr16:81252203-81252204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4889285	chr16:81252258-81252259	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs566572587	chr16:81252265-81252266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71400150	chr16:81252289-81252290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200945459	chr16:81252305-81252306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs11305272	chr16:81252328-81252329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7186743	chr16:81252337-81252338	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs555383981	chr16:81252409-81252410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs185668388	chr16:81252412-81252413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538112222	chr16:81252413-81252414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555501644	chr16:81252436-81252437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140296858	chr16:81252455-81252456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577725772	chr16:81252464-81252465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544879563	chr16:81252497-81252498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190036049	chr16:81252516-81252517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182193540	chr16:81252530-81252531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187618107	chr16:81252531-81252532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142495495	chr16:81252535-81252536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372996698	chr16:81252545-81252546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs529286604	chr16:81252552-81252553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs574347824	chr16:81252563-81252564	Weak transcription	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
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

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81215000-81254600	Weak transcription	Right Atrium	heart
2	chr16:81248600-81253800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr16:81249000-81257200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:81253400-81254000	Enhancers	K562	blood
5	chr16:81253600-81254000	Bivalent Enhancer	Placenta	Placenta
6	chr16:81253600-81254200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr16:81253600-81254200	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr16:81253600-81254800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:81253800-81254000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr16:81253800-81254200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:81253800-81254200	Bivalent Enhancer	Fetal Intestine Large	intestine
12	chr16:81253800-81254400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:81253800-81254600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr16:81254000-81254600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:81254000-81254800	Flanking Active TSS	K562	blood
16	chr16:81254200-81254400	Enhancers	Fetal Intestine Large	intestine
17	chr16:81254200-81258600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:81254400-81256800	Weak transcription	Fetal Intestine Large	intestine
19	chr16:81254600-81254800	Enhancers	Placenta	Placenta
20	chr16:81254800-81256200	Weak transcription	K562	blood
21	chr16:81254800-81256400	Weak transcription	Placenta	Placenta
22	chr16:81254800-81256800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr16:81256200-81257400	Enhancers	K562	blood
24	chr16:81256200-81257600	Enhancers	Duodenum Mucosa	Duodenum
25	chr16:81256400-81257800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr16:81256400-81259000	Enhancers	Fetal Intestine Small	intestine
27	chr16:81256400-81259000	Enhancers	Placenta	Placenta
28	chr16:81256600-81256800	Enhancers	Fetal Heart	heart
29	chr16:81256600-81257400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr16:81256800-81257200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:81256800-81257200	Flanking Active TSS	Fetal Heart	heart
32	chr16:81256800-81257200	Enhancers	Gastric	stomach
33	chr16:81256800-81257400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr16:81256800-81257400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr16:81256800-81257400	Enhancers	Fetal Kidney	kidney
36	chr16:81256800-81257600	Enhancers	Fetal Intestine Large	intestine
37	chr16:81256800-81257600	Bivalent Enhancer	HepG2	liver
38	chr16:81257200-81257400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr16:81257200-81257400	Enhancers	Right Atrium	heart
40	chr16:81257200-81257600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr16:81257200-81258400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr16:81257200-81258600	Enhancers	Fetal Heart	heart
43	chr16:81257400-81257600	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr16:81257400-81259800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr16:81257600-81261400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr16:81257600-81262000	Weak transcription	Fetal Intestine Large	intestine
47	chr16:81257600-81271000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr16:81257800-81258600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:81258400-81259000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:81258400-81259000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links