Variant report

Variant	esv1813852
Chromosome Location	chr14:37768769-37810699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:229)
CpG islands
(count:61)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:229 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:37798163-37799893	HepG2	liver:	n/a	n/a
2	CEBPB	chr14:37792920-37793213	IMR90	lung:	n/a	n/a
3	CEBPB	chr14:37793032-37793130	K562	blood:	n/a	n/a
4	CEBPB	chr14:37798555-37799221	A549	lung:	n/a	chr14:37799007-37799020
5	CEBPB	chr14:37798396-37799173	HepG2	liver:	n/a	chr14:37799007-37799020
6	CEBPB	chr14:37792902-37793196	HepG2	liver:	n/a	n/a
7	CEBPB	chr14:37789298-37789551	Hela-S3	cervix:	n/a	n/a
8	CEBPB	chr14:37792980-37793071	A549	lung:	n/a	n/a
9	CTCF	chr14:37809760-37809910	HCT-116	colon:	n/a	n/a
10	CTCF	chr14:37809736-37809856	Gliobla	brain:	n/a	n/a
11	CTCF	chr14:37806631-37806677	Fibrobl	skin:	n/a	n/a
12	CTCF	chr14:37809720-37809870	AG04450	lung:	n/a	n/a
13	CTCF	chr14:37809640-37809790	HMEC	breast:	n/a	n/a
14	CTCF	chr14:37809760-37809910	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr14:37809880-37810030	HFF-Myc	foreskin:	n/a	n/a
16	CTCF	chr14:37809560-37809710	HepG2	liver:	n/a	n/a
17	CTCF	chr14:37809537-37809947	MCF-7	breast:	n/a	n/a
18	CTCF	chr14:37809720-37809870	HepG2	liver:	n/a	n/a
19	CTCF	chr14:37809780-37809930	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr14:37809680-37809830	HCPEpiC	choroid plexus:	n/a	n/a
21	CTCF	chr14:37809700-37809904	A549	lung:	n/a	n/a
22	CTCF	chr14:37809657-37809930	MCF-7	breast:	n/a	n/a
23	CTCF	chr14:37809680-37809830	GM12873	blood:	n/a	n/a
24	CTCF	chr14:37809731-37809885	NHEK	skin:	n/a	n/a
25	CTCF	chr14:37809708-37809903	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr14:37809720-37809870	MCF-7	breast:	n/a	n/a
27	CTCF	chr14:37809740-37809890	K562	blood:	n/a	n/a
28	CTCF	chr14:37809740-37809890	HVMF	connective:	n/a	n/a
29	CTCF	chr14:37809651-37809915	HepG2	liver:	n/a	n/a
30	CTCF	chr14:37809720-37809870	AG04449	skin:	n/a	n/a
31	CTCF	chr14:37809740-37809890	BE2_C	brain:	n/a	n/a
32	CTCF	chr14:37809731-37809871	HepG2	liver:	n/a	n/a
33	CTCF	chr14:37783420-37783570	HepG2	liver:	n/a	n/a
34	CTCF	chr14:37809651-37810039	MCF-7	breast:	n/a	n/a
35	CTCF	chr14:37809740-37809890	NB4	blood:	n/a	n/a
36	CTCF	chr14:37809820-37809970	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr14:37809780-37809930	NHEK	skin:	n/a	n/a
38	CTCF	chr14:37809633-37809907	HepG2	liver:	n/a	n/a
39	CTCF	chr14:37809661-37809920	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr14:37809700-37809850	HCT-116	colon:	n/a	n/a
41	CTCF	chr14:37809780-37809930	HEK293	kidney:	n/a	n/a
42	CTCF	chr14:37809780-37809930	HUVEC	blood vessel:	n/a	n/a
43	CTCF	chr14:37809780-37809930	AG10803	skin:	n/a	n/a
44	CTCF	chr14:37809780-37809930	HPAF	blood vessel:	n/a	n/a
45	CTCF	chr14:37809820-37809970	A549	lung:	n/a	n/a
46	CTCF	chr14:37809760-37809910	GM12872	blood:	n/a	n/a
47	CTCF	chr14:37809800-37809950	BJ	skin:	n/a	n/a
48	CTCF	chr14:37809720-37809870	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr14:37809741-37809929	K562	blood:	n/a	n/a
50	CTCF	chr14:37810040-37810190	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37773865-37773915	Hepatocyte	liver:	n/a
2	chr14:37773865-37773915	HRE	kidney:	n/a
3	chr14:37773865-37773915	HNPCEpiC	eye:	n/a
4	chr14:37773865-37773915	Hela-S3	cervix:	n/a
5	chr14:37773865-37773915	ProgFib	skin:	n/a
6	chr14:37773865-37773915	GM12892	blood:	n/a
7	chr14:37773865-37773915	LNCaP	prostate:	n/a
8	chr14:37773865-37773915	GM12878	blood:	n/a
9	chr14:37773865-37773915	K562	blood:	n/a
10	chr14:37773865-37773915	HRCEpiC	kidney:	n/a
11	chr14:37773865-37773915	NB4	blood:	n/a
12	chr14:37773865-37773915	AoSMC	blood vessel:	n/a
13	chr14:37773865-37773915	GM06990	blood:	n/a
14	chr14:37773865-37773915	HIPEpiC	eye:	n/a
15	chr14:37773865-37773915	PANC-1	pancreas:	n/a
16	chr14:37773865-37773915	GM12891	blood:	n/a
17	chr14:37773865-37773915	NHBE	bronchial:	n/a
18	chr14:37773865-37773915	T-47D	breast:	n/a
19	chr14:37773865-37773915	AG09309	skin:	n/a
20	chr14:37773865-37773915	SK-N-MC	brain:	n/a
21	chr14:37773865-37773915	SAEC	small airway:	n/a
22	chr14:37773865-37773915	SK-N-SH	brain:	n/a
23	chr14:37773865-37773915	SK-N-SH_RA	brain:	n/a
24	chr14:37773865-37773915	HCT-116	colon:	n/a
25	chr14:37773865-37773915	CMK	blood:	n/a
26	chr14:37773865-37773915	PFSK-1	brain:	n/a
27	chr14:37773865-37773915	AG04449	skin:	fetal
28	chr14:37773865-37773915	HUVEC	blood vessel:	n/a
29	chr14:37773865-37773915	SKMC	muscle:	n/a
30	chr14:37773865-37773915	MCF-7	breast:	n/a
31	chr14:37773865-37773915	H1-hESC	embryonic stem cell:	embryo
32	chr14:37773865-37773915	HepG2	liver:	n/a
33	chr14:37773865-37773915	AG04450	lung:	fetal
34	chr14:37773865-37773915	BJ	skin:	n/a
35	chr14:37773865-37773915	NHDF-neo	bronchial:	n/a
36	chr14:37773865-37773915	AG09319	gingival:	n/a
37	chr14:37773865-37773915	HPAEpiC	pulmonary alveolar:	n/a
38	chr14:37773865-37773915	BE2_C	brain:	n/a
39	chr14:37773865-37773915	HEEpiC	esophagus:	n/a
40	chr14:37773865-37773915	PrEC	prostate:	n/a
41	chr14:37773865-37773915	A549	lung:	n/a
42	chr14:37773865-37773915	U87	brain:	n/a
43	chr14:37773865-37773915	RPTEC	kidney:	n/a
44	chr14:37773865-37773915	HMEC	breast:	n/a
45	chr14:37773865-37773915	ECC-1	luminal epithelium:	n/a
46	chr14:37773865-37773915	HL-60	blood:	n/a
47	chr14:37773865-37773915	Jurkat	blood:	n/a
48	chr14:37773865-37773915	HAEpiC	amniotic membrane:	n/a
49	chr14:37773865-37773915	NT2-D1	testis:	n/a
50	chr14:37773865-37773915	IMR90	lung:	fetal

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:37789885..37792148-chr14:37882206..37884543,2	MCF-7	breast:
2	chr14:37773087..37774613-chr14:38035112..38036997,2	MCF-7	breast:
3	chr14:37781292..37783643-chr14:37787358..37789012,2	MCF-7	breast:
4	chr11:116508203..116508771-chr14:37786310..37786828,2	MCF-7	breast:
5	chr14:37793105..37794977-chr14:37796804..37798845,2	MCF-7	breast:
6	chr14:37793105..37794977-chr14:37796804..37798845,2	MCF-7	breast:
7	chr14:37797120..37799536-chr14:37801001..37803434,2	MCF-7	breast:
8	chr14:37781292..37783643-chr14:37787358..37789012,2	MCF-7	breast:
9	chr14:37776717..37778378-chr14:37785144..37786956,2	MCF-7	breast:
10	chr14:37802283..37804083-chr14:38062449..38064880,2	MCF-7	breast:
11	chr14:37797120..37799536-chr14:37801001..37803434,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIPOL1	TF binding region
MIPOL1	CpG island
ENSG00000129514	chromatin interactions
ENSG00000259087	chromatin interactions
ENSG00000151338	chromatin interactions

Extended variants
information (count: 1462 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:1462 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1005539	chr14:37768769-37768770	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs1123541	chr14:37768787-37768788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs148911898	chr14:37768824-37768825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560515707	chr14:37768828-37768829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528408727	chr14:37768866-37768867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112786016	chr14:37768890-37768891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377168736	chr14:37768904-37768905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs542096947	chr14:37768919-37768920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs368539874	chr14:37768921-37768922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs111482539	chr14:37768924-37768925	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs184890658	chr14:37768940-37768941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556330528	chr14:37768960-37768961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372476288	chr14:37769004-37769005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151002002	chr14:37769012-37769013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573818288	chr14:37769052-37769053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570225094	chr14:37769058-37769059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs532834304	chr14:37769071-37769072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188236875	chr14:37769078-37769079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs74047277	chr14:37769081-37769082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs535816099	chr14:37769104-37769105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140836556	chr14:37769140-37769141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569524489	chr14:37769169-37769170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181069225	chr14:37769182-37769183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs558349778	chr14:37769245-37769246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185398264	chr14:37769257-37769258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544346700	chr14:37769282-37769283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78153810	chr14:37769293-37769294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191527374	chr14:37769316-37769317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372692390	chr14:37769340-37769341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573975856	chr14:37769408-37769409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs112599941	chr14:37769433-37769434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562023590	chr14:37769476-37769477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111310381	chr14:37769499-37769500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs556358014	chr14:37769541-37769542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530680592	chr14:37769569-37769570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs544022727	chr14:37769579-37769580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563919937	chr14:37769590-37769591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183412050	chr14:37769598-37769599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187125788	chr14:37769603-37769604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376097793	chr14:37769605-37769606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112835777	chr14:37769617-37769618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369264434	chr14:37769700-37769701	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373723823	chr14:37769705-37769706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs376693713	chr14:37769707-37769708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371561105	chr14:37769710-37769711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374455394	chr14:37769714-37769715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs11628386	chr14:37769718-37769719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112894491	chr14:37769722-37769723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12893357	chr14:37769724-37769725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186665959	chr14:37769818-37769819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	17925434	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Lung cancer	20031968	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Prostate cancer	21147910	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Osteosarcoma	21215367	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37716000-37770600	Weak transcription	A549	lung
2	chr14:37752400-37796200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr14:37754200-37781400	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:37759000-37810600	Weak transcription	Psoas Muscle	Psoas
5	chr14:37761000-37778400	Weak transcription	HUVEC	blood vessel
6	chr14:37762400-37776200	Weak transcription	Fetal Lung	lung
7	chr14:37762600-37812400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:37763200-37778400	Weak transcription	Ovary	ovary
9	chr14:37763200-37797400	Weak transcription	Left Ventricle	heart
10	chr14:37763400-37773200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr14:37765000-37777200	Weak transcription	HepG2	liver
12	chr14:37769000-37769200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr14:37769400-37800000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:37772000-37774000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr14:37772200-37774600	Weak transcription	HMEC	breast
16	chr14:37772600-37773800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:37773000-37773400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr14:37773000-37773800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr14:37773000-37774000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr14:37773000-37774000	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr14:37773200-37774000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:37773200-37774000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:37774000-37778200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr14:37774200-37785600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:37775200-37817000	Weak transcription	Aorta	Aorta
26	chr14:37776200-37792400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:37776400-37778400	Weak transcription	Adipose Nuclei	Adipose
28	chr14:37777000-37779200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:37777200-37780600	Strong transcription	HepG2	liver
30	chr14:37778000-37780400	Weak transcription	Fetal Muscle Leg	muscle
31	chr14:37778400-37778800	Strong transcription	Adipose Nuclei	Adipose
32	chr14:37778400-37780400	Strong transcription	Ovary	ovary
33	chr14:37778400-37780400	Strong transcription	HUVEC	blood vessel
34	chr14:37778800-37785200	Weak transcription	Adipose Nuclei	Adipose
35	chr14:37780400-37786200	Weak transcription	HUVEC	blood vessel
36	chr14:37780400-37795000	Weak transcription	Ovary	ovary
37	chr14:37780600-37796800	Weak transcription	HepG2	liver
38	chr14:37786200-37787400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:37786800-37787400	Enhancers	Primary hematopoietic stem cells	blood
40	chr14:37788200-37789000	Enhancers	NHEK	skin
41	chr14:37789000-37792200	Weak transcription	NHEK	skin
42	chr14:37789400-37789600	Enhancers	A549	lung
43	chr14:37789400-37790200	Enhancers	Hela-S3	cervix
44	chr14:37789600-37792800	Weak transcription	A549	lung
45	chr14:37791400-37791600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr14:37791600-37799600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr14:37792800-37799800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr14:37793200-37794000	Enhancers	Brain Germinal Matrix	brain
49	chr14:37795000-37796200	Strong transcription	Ovary	ovary
50	chr14:37795600-37795800	Enhancers	Gastric	stomach

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