Variant report

Variant	esv1794316
Chromosome Location	chr14:64717748-64730868
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:64728467-64728631	K562	blood:	n/a	chr14:64728525-64728536
2	CEBPB	chr14:64722044-64722263	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:64728386-64728731	MCF-7	breast:	n/a	chr14:64728525-64728536
4	CEBPB	chr14:64728458-64728668	IMR90	lung:	n/a	chr14:64728525-64728536
5	CEBPB	chr14:64728435-64728660	A549	lung:	n/a	chr14:64728525-64728536
6	CEBPB	chr14:64728464-64728663	HepG2	liver:	n/a	chr14:64728525-64728536
7	CTCF	chr14:64724853-64724867	MCF-7	breast:	n/a	n/a
8	CTCF	chr14:64724855-64724871	MCF-7	breast:	n/a	n/a
9	CTCF	chr14:64725960-64726110	GM12878	blood:	n/a	n/a
10	E2F4	chr14:64720404-64720604	MCF10A-Er-Src	breast:	n/a	n/a
11	EP300	chr14:64722527-64722756	SK-N-SH_RA	brain:	n/a	n/a
12	FOS	chr14:64720425-64720796	MCF10A-Er-Src	breast:	n/a	chr14:64720468-64720477
13	FOS	chr14:64720392-64720834	HUVEC	blood vessel:	n/a	chr14:64720468-64720477
14	FOS	chr14:64720475-64720730	MCF10A-Er-Src	breast:	n/a	n/a
15	FOS	chr14:64720426-64720793	MCF10A-Er-Src	breast:	n/a	chr14:64720468-64720477
16	FOS	chr14:64720416-64720774	MCF10A-Er-Src	breast:	n/a	chr14:64720468-64720477
17	FOS	chr14:64721169-64721218	MCF10A-Er-Src	breast:	n/a	n/a
18	GATA1	chr14:64729494-64729905	PBDE	blood:	n/a	n/a
19	GATA2	chr14:64722295-64722804	SH-SY5Y	brain:	n/a	n/a
20	GATA3	chr14:64722169-64722363	SH-SY5Y	brain:	n/a	n/a
21	GATA3	chr14:64720365-64720868	SK-N-SH	brain:	n/a	chr14:64720828-64720839
22	JUN	chr14:64720451-64720773	HUVEC	blood vessel:	n/a	chr14:64720468-64720477
23	JUND	chr14:64720478-64720863	SK-N-SH	brain:	n/a	n/a
24	MYC	chr14:64724795-64724891	MCF-7	breast:	n/a	n/a
25	NFIC	chr14:64720263-64720878	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr14:64724686-64724891	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:64722116-64722161	K562	blood:	n/a	n/a
28	POLR2A	chr14:64720357-64720868	HUVEC	blood vessel:	n/a	n/a
29	POLR2A	chr14:64730392-64730413	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr14:64724688-64724891	MCF-7	breast:	n/a	n/a
31	STAT3	chr14:64727732-64727745	MCF10A-Er-Src	breast:	n/a	n/a
32	STAT3	chr14:64730551-64730595	MCF10A-Er-Src	breast:	n/a	n/a
33	TCF12	chr14:64720371-64720930	SK-N-SH	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64727509-64727559	GM19239	blood:	n/a
2	chr14:64727509-64727559	PFSK-1	brain:	n/a
3	chr14:64727509-64727559	AoSMC	blood vessel:	n/a
4	chr14:64727509-64727559	HRE	kidney:	n/a
5	chr14:64727509-64727559	HAEpiC	amniotic membrane:	n/a
6	chr14:64727509-64727559	AG09309	skin:	n/a
7	chr14:64727509-64727559	NT2-D1	testis:	n/a
8	chr14:64727509-64727559	AG10803	skin:	n/a
9	chr14:64727509-64727559	Hela-S3	cervix:	n/a
10	chr14:64727509-64727559	HCPEpiC	choroid plexus:	n/a
11	chr14:64727509-64727559	BE2_C	brain:	n/a
12	chr14:64727509-64727559	PrEC	prostate:	n/a
13	chr14:64727509-64727559	Caco-2	colon:	n/a
14	chr14:64727509-64727559	ovcar-3	ovarian:	n/a
15	chr14:64727509-64727559	AG09319	gingival:	n/a
16	chr14:64727509-64727559	NH-A	brain:	n/a
17	chr14:64727509-64727559	SAEC	small airway:	n/a
18	chr14:64727509-64727559	MCF-7	breast:	n/a
19	chr14:64727509-64727559	BJ	skin:	n/a
20	chr14:64727509-64727559	ECC-1	luminal epithelium:	n/a
21	chr14:64727509-64727559	IMR90	lung:	fetal
22	chr14:64727509-64727559	HUVEC	blood vessel:	n/a
23	chr14:64727509-64727559	HL-60	blood:	n/a
24	chr14:64727509-64727559	LNCaP	prostate:	n/a
25	chr14:64727509-64727559	HCT-116	colon:	n/a
26	chr14:64727509-64727559	RPTEC	kidney:	n/a
27	chr14:64727509-64727559	T-47D	breast:	n/a
28	chr14:64727509-64727559	NHDF-neo	bronchial:	n/a
29	chr14:64727509-64727559	U87	brain:	n/a
30	chr14:64727509-64727559	HepG2	liver:	n/a
31	chr14:64727509-64727559	SK-N-SH_RA	brain:	n/a
32	chr14:64727509-64727559	Hepatocyte	liver:	n/a
33	chr14:64727509-64727559	NHBE	bronchial:	n/a
34	chr14:64727509-64727559	HCM	heart:	n/a
35	chr14:64727509-64727559	NB4	blood:	n/a
36	chr14:64727509-64727559	GM06990	blood:	n/a
37	chr14:64727509-64727559	HEEpiC	esophagus:	n/a
38	chr14:64727509-64727559	HMEC	breast:	n/a
39	chr14:64727509-64727559	SK-N-MC	brain:	n/a
40	chr14:64727509-64727559	GM12891	blood:	n/a
41	chr14:64727509-64727559	HNPCEpiC	eye:	n/a
42	chr14:64727509-64727559	CMK	blood:	n/a
43	chr14:64727509-64727559	HIPEpiC	eye:	n/a
44	chr14:64727509-64727559	HRPEpiC	eye:	n/a
45	chr14:64727509-64727559	SK-N-SH	brain:	n/a
46	chr14:64727509-64727559	K562	blood:	n/a
47	chr14:64727509-64727559	HCF	heart:	n/a
48	chr14:64727509-64727559	GM12892	blood:	n/a
49	chr14:64727509-64727559	ProgFib	skin:	n/a
50	chr14:64727509-64727559	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr14:64716532..64719050-chr14:64719291..64721027,2	K562	blood:
2	chr14:64717872..64720622-chr20:42088460..42090931,2	MCF-7	breast:
3	chr14:64720551..64722401-chr14:64723045..64724557,2	MCF-7	breast:
4	chr14:64716532..64719050-chr14:64719291..64721027,2	K562	blood:
5	chr14:64720551..64722401-chr14:64723045..64724557,2	MCF-7	breast:

No data

Variant related genes	Relation type
ESR2	TF binding region
ESR2	CpG island

Extended variants
information (count: 550 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:550 , 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	rs560289725	chr14:64717753-64717754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs188139975	chr14:64717768-64717769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569435460	chr14:64717803-64717804	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs61984379	chr14:64717818-64717819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs72548767	chr14:64717935-64717936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs538108052	chr14:64717952-64717953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs557752147	chr14:64717992-64717993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs56891823	chr14:64718017-64718018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11297817	chr14:64718026-64718027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200000913	chr14:64718028-64718029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35412659	chr14:64718029-64718030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199753615	chr14:64718030-64718031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs568869520	chr14:64718034-64718035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537801092	chr14:64718035-64718036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7493519	chr14:64718040-64718041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs7493535	chr14:64718041-64718042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557050733	chr14:64718042-64718043	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs199772185	chr14:64718051-64718052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78882591	chr14:64718122-64718123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs111881046	chr14:64718130-64718131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs145213723	chr14:64718131-64718132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202109237	chr14:64718134-64718135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147051914	chr14:64718138-64718139	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs202171174	chr14:64718140-64718141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs375029360	chr14:64718145-64718146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs374159260	chr14:64718148-64718149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs72548768	chr14:64718149-64718150	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs534065595	chr14:64718309-64718310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554138131	chr14:64718331-64718332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573853680	chr14:64718379-64718380	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536075687	chr14:64718381-64718382	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79306444	chr14:64718433-64718434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs559855832	chr14:64718455-64718456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs192706941	chr14:64718478-64718479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs115564390	chr14:64718494-64718495	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs138132105	chr14:64718501-64718502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs564122761	chr14:64718542-64718543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374146654	chr14:64718584-64718585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs577641212	chr14:64718677-64718678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183624886	chr14:64718680-64718681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188435589	chr14:64718688-64718689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573362270	chr14:64718703-64718704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs143484682	chr14:64718724-64718725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs528704306	chr14:64718760-64718761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs531297589	chr14:64718847-64718848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs551955861	chr14:64718851-64718852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181911577	chr14:64718941-64718942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542219947	chr14:64718979-64718980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533794466	chr14:64719017-64719018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs34569310	chr14:64719018-64719019	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance

Variant related diseases (count:61)

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
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
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Leukemia	18688285	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Autism	22543975	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64713000-64723800	Weak transcription	Thymus	Thymus
2	chr14:64715600-64718600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr14:64716000-64718000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:64716200-64722000	Weak transcription	Fetal Lung	lung
5	chr14:64716400-64733000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr14:64716600-64718000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:64717200-64718000	Enhancers	Ovary	ovary
8	chr14:64717400-64718000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:64717600-64724000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:64718000-64722000	Weak transcription	Ovary	ovary
11	chr14:64720000-64720400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:64720200-64720400	Enhancers	NH-A	brain
13	chr14:64720200-64720600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr14:64720200-64721000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr14:64720200-64721200	Enhancers	HUVEC	blood vessel
16	chr14:64720400-64720600	Enhancers	Osteobl	bone
17	chr14:64720400-64720800	Enhancers	NHDF-Ad	bronchial
18	chr14:64720400-64721000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:64720400-64721000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:64720400-64721000	Enhancers	Stomach Mucosa	stomach
21	chr14:64720400-64721000	Enhancers	A549	lung
22	chr14:64720400-64721000	Enhancers	HMEC	breast
23	chr14:64720400-64721000	Enhancers	HSMM	muscle
24	chr14:64720400-64721000	Flanking Active TSS	NH-A	brain
25	chr14:64720400-64721200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:64720400-64721200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:64720400-64721200	Enhancers	NHLF	lung
28	chr14:64720600-64721000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr14:64720600-64721000	Enhancers	NHEK	skin
30	chr14:64720600-64721000	Flanking Active TSS	Osteobl	bone
31	chr14:64721000-64721200	Enhancers	NH-A	brain
32	chr14:64721000-64721200	Enhancers	Osteobl	bone
33	chr14:64721000-64721400	Enhancers	Muscle Satellite Cultured Cells	--
34	chr14:64721200-64721400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:64721400-64721800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:64721600-64730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:64721800-64722200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:64722000-64722400	Enhancers	Colon Smooth Muscle	Colon
39	chr14:64722000-64722600	Enhancers	Fetal Lung	lung
40	chr14:64722000-64724400	Strong transcription	Ovary	ovary
41	chr14:64722200-64722400	Enhancers	Fetal Stomach	stomach
42	chr14:64722600-64722800	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr14:64722600-64722800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr14:64722800-64724000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr14:64723000-64724000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:64723800-64724000	Strong transcription	Thymus	Thymus
47	chr14:64724000-64724200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:64724000-64724200	ZNF genes & repeats	Thymus	Thymus
49	chr14:64724000-64724400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr14:64724000-64724400	Enhancers	H1 Cell Line	embryonic stem cell

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