Variant report

Variant	nsv977474
Chromosome Location	chr14:64057229-64061708
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:72)
CpG islands
(count:183)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:72 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr14:64060725-64061292	K562	blood:	n/a	n/a
2	CEBPB	chr14:64059620-64059820	A549	lung:	n/a	n/a
3	CEBPB	chr14:64060692-64060992	K562	blood:	n/a	chr14:64060817-64060828
4	CEBPB	chr14:64060661-64060983	HepG2	liver:	n/a	chr14:64060817-64060828
5	CTCF	chr14:64057200-64057350	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr14:64060345-64060376	LNCaP	prostate:	n/a	n/a
7	CTCF	chr14:64060618-64060679	GM13977	blood:	n/a	n/a
8	E2F6	chr14:64060672-64061985	H1-hESC	embryonic stem cell:	n/a	n/a
9	ELF1	chr14:64060527-64061022	GM12878	blood:	n/a	n/a
10	ELF1	chr14:64061344-64061671	GM12878	blood:	n/a	n/a
11	FOSL2	chr14:64061470-64062144	HepG2	liver:	n/a	n/a
12	FOSL2	chr14:64060814-64061214	HepG2	liver:	n/a	n/a
13	GTF2F1	chr14:64060448-64061455	H1-hESC	embryonic stem cell:	n/a	n/a
14	GTF2F1	chr14:64060697-64060990	Hela-S3	cervix:	n/a	n/a
15	MAX	chr14:64060738-64061495	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr14:64060841-64061653	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr14:64060901-64061096	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:64060798-64061342	GM12878	blood:	n/a	n/a
19	POLR2A	chr14:64061365-64062060	K562	blood:	n/a	n/a
20	POLR2A	chr14:64060624-64060652	K562	blood:	n/a	n/a
21	POLR2A	chr14:64057079-64057425	HepG2	liver:	n/a	n/a
22	POLR2A	chr14:64061640-64062076	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr14:64059079-64059106	HepG2	liver:	n/a	n/a
24	POLR2A	chr14:64058508-64058691	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:64060316-64060385	HepG2	liver:	n/a	n/a
26	POLR2A	chr14:64061149-64061227	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:64061014-64061286	GM12878	blood:	n/a	n/a
28	POLR2A	chr14:64060442-64062193	SK-N-MC	brain:	n/a	n/a
29	POLR2A	chr14:64060574-64060575	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr14:64057206-64057407	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr14:64061302-64062121	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr14:64057123-64057318	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr14:64059530-64063027	K562	blood:	n/a	n/a
34	POLR2A	chr14:64061181-64061629	HL-60	blood:	n/a	n/a
35	POLR2A	chr14:64060578-64062206	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:64061375-64061620	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr14:64059385-64059413	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr14:64061626-64061950	ProgFib	skin:	n/a	n/a
39	POLR2A	chr14:64060039-64060071	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr14:64061545-64061554	MCF-7	breast:	n/a	n/a
41	POLR2A	chr14:64060007-64060080	K562	blood:	n/a	n/a
42	POLR2A	chr14:64058929-64058957	HepG2	liver:	n/a	n/a
43	POLR2A	chr14:64061455-64061643	MCF-7	breast:	n/a	n/a
44	POLR2A	chr14:64060638-64061142	HL-60	blood:	n/a	n/a
45	POLR2A	chr14:64059989-64059995	K562	blood:	n/a	n/a
46	POLR2A	chr14:64061502-64061538	MCF-7	breast:	n/a	n/a
47	POLR2A	chr14:64060896-64061028	MCF-7	breast:	n/a	n/a
48	POLR2A	chr14:64060587-64060703	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr14:64060206-64060405	MCF-7	breast:	n/a	n/a
50	POLR2A	chr14:64060675-64061183	HL-60	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:64061507-64061557	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:64061507-64061557	Hepatocyte	liver:	n/a
3	chr14:64061538-64061588	HRCEpiC	kidney:	n/a
4	chr14:64061507-64061557	PrEC	prostate:	n/a
5	chr14:64061538-64061588	HUVEC	blood vessel:	n/a
6	chr14:64061538-64061588	MCF10A-Er-Src	breast:	n/a
7	chr14:64061538-64061588	SK-N-SH	brain:	n/a
8	chr14:64061538-64061588	HL-60	blood:	n/a
9	chr14:64058994-64059044	ProgFib	skin:	n/a
10	chr14:64058994-64059044	SAEC	small airway:	n/a
11	chr14:64058994-64059044	HCPEpiC	choroid plexus:	n/a
12	chr14:64058994-64059044	HMEC	breast:	n/a
13	chr14:64058994-64059044	NHDF-neo	bronchial:	n/a
14	chr14:64061507-64061557	NH-A	brain:	n/a
15	chr14:64058994-64059044	HRPEpiC	eye:	n/a
16	chr14:64058994-64059044	HUVEC	blood vessel:	n/a
17	chr14:64061507-64061557	T-47D	breast:	n/a
18	chr14:64061538-64061588	HPAEpiC	pulmonary alveolar:	n/a
19	chr14:64061507-64061557	A549	lung:	n/a
20	chr14:64061538-64061588	GM12878	blood:	n/a
21	chr14:64061507-64061557	K562	blood:	n/a
22	chr14:64058994-64059044	NB4	blood:	n/a
23	chr14:64061507-64061557	LNCaP	prostate:	n/a
24	chr14:64058994-64059044	ovcar-3	ovarian:	n/a
25	chr14:64061507-64061557	HRPEpiC	eye:	n/a
26	chr14:64061538-64061588	BE2_C	brain:	n/a
27	chr14:64058994-64059044	HL-60	blood:	n/a
28	chr14:64061507-64061557	GM12892	blood:	n/a
29	chr14:64058994-64059044	AoSMC	blood vessel:	n/a
30	chr14:64061538-64061588	AoSMC	blood vessel:	n/a
31	chr14:64058994-64059044	HAEpiC	amniotic membrane:	n/a
32	chr14:64061538-64061588	ProgFib	skin:	n/a
33	chr14:64061507-64061557	SAEC	small airway:	n/a
34	chr14:64058994-64059044	IMR90	lung:	fetal
35	chr14:64061538-64061588	BJ	skin:	n/a
36	chr14:64058994-64059044	U87	brain:	n/a
37	chr14:64061538-64061588	NH-A	brain:	n/a
38	chr14:64058994-64059044	AG09309	skin:	n/a
39	chr14:64061507-64061557	GM19239	blood:	n/a
40	chr14:64061507-64061557	Hela-S3	cervix:	n/a
41	chr14:64061538-64061588	HNPCEpiC	eye:	n/a
42	chr14:64058994-64059044	AG10803	skin:	n/a
43	chr14:64061507-64061557	GM12878	blood:	n/a
44	chr14:64061538-64061588	PANC-1	pancreas:	n/a
45	chr14:64058994-64059044	NH-A	brain:	n/a
46	chr14:64061538-64061588	HMEC	breast:	n/a
47	chr14:64061538-64061588	HepG2	liver:	n/a
48	chr14:64061507-64061557	HNPCEpiC	eye:	n/a
49	chr14:64061538-64061588	HRE	kidney:	n/a
50	chr14:64058994-64059044	HEK293	kidney:	embryo

No data

Variant related genes	Relation type
ENSG00000258800	TF binding region
ENSG00000258800	CpG island

Extended variants
information (count: 204 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:204 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538011718	chr14:64057229-64057230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114506862	chr14:64057243-64057244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554766212	chr14:64057247-64057248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs578186739	chr14:64057259-64057260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534551510	chr14:64057317-64057318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555788773	chr14:64057319-64057320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184137351	chr14:64057353-64057354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs573709198	chr14:64057400-64057401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs60777898	chr14:64057417-64057418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs572350928	chr14:64057423-64057424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs57448634	chr14:64057438-64057439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76854400	chr14:64057468-64057469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562534980	chr14:64057477-64057478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs80229958	chr14:64057531-64057532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111453731	chr14:64057540-64057541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565127746	chr14:64057554-64057555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs35155111	chr14:64057565-64057566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs188114683	chr14:64057566-64057567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192639284	chr14:64057567-64057568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs61984025	chr14:64057578-64057579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560868118	chr14:64057595-64057596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs184194366	chr14:64057603-64057604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189509775	chr14:64057662-64057663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs61984026	chr14:64057704-64057705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531263170	chr14:64057707-64057708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs181744325	chr14:64057743-64057744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184710191	chr14:64057751-64057752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544419370	chr14:64057888-64057889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551676464	chr14:64057979-64057980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs143527300	chr14:64058001-64058002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534475331	chr14:64058038-64058039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577745317	chr14:64058071-64058072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199876599	chr14:64058127-64058128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554479200	chr14:64058137-64058138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540253345	chr14:64058157-64058158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574403580	chr14:64058171-64058172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs536213754	chr14:64058200-64058201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs564693872	chr14:64058212-64058213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556198486	chr14:64058217-64058218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560577728	chr14:64058243-64058244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188916620	chr14:64058312-64058313	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545123379	chr14:64058357-64058358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540469263	chr14:64058406-64058407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373016113	chr14:64058412-64058413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs200010174	chr14:64058418-64058419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs28651379	chr14:64058426-64058427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs61696006	chr14:64058429-64058430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs8014373	chr14:64058430-64058431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564908321	chr14:64058431-64058432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372457475	chr14:64058434-64058435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Myelofibrosis	22110671	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Ovarian cancer	21781307	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64054600-64060000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:64059000-64060600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr14:64059200-64065600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:64059800-64064800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:64060000-64062200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:64060400-64062200	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr14:64060400-64062400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
8	chr14:64060400-64062800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
9	chr14:64060600-64061600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr14:64060600-64061600	ZNF genes & repeats	A549	lung
11	chr14:64060600-64062000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:64060600-64062000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr14:64060600-64062000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
14	chr14:64060600-64062200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:64060600-64062200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:64060600-64062200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:64060600-64062200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:64060600-64062200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:64060600-64062200	ZNF genes & repeats	Esophagus	oesophagus
20	chr14:64060600-64062600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
21	chr14:64060600-64062600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr14:64060800-64061000	ZNF genes & repeats	Brain Angular Gyrus	brain
23	chr14:64060800-64062000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:64060800-64062000	ZNF genes & repeats	Fetal Lung	lung
25	chr14:64060800-64062200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr14:64060800-64062200	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr14:64060800-64062200	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
28	chr14:64060800-64062400	ZNF genes & repeats	Placenta	Placenta
29	chr14:64060800-64062600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:64060800-64062800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:64060800-64062800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr14:64060800-64063000	ZNF genes & repeats	Brain Germinal Matrix	brain
33	chr14:64060800-64063200	ZNF genes & repeats	Aorta	Aorta
34	chr14:64060800-64063600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr14:64060800-64063600	ZNF genes & repeats	Dnd41	blood
36	chr14:64061000-64062000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
37	chr14:64061000-64062000	ZNF genes & repeats	Spleen	Spleen
38	chr14:64061000-64062000	ZNF genes & repeats	HSMMtube	muscle
39	chr14:64061000-64062200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:64061000-64062200	ZNF genes & repeats	Lung	lung
41	chr14:64061000-64062200	ZNF genes & repeats	Thymus	Thymus
42	chr14:64061000-64062400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:64061000-64063000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr14:64061000-64063200	ZNF genes & repeats	Fetal Muscle Leg	muscle
45	chr14:64061000-64065400	Weak transcription	Brain Angular Gyrus	brain
46	chr14:64061200-64062000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr14:64061200-64062200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
48	chr14:64061200-64062200	ZNF genes & repeats	Fetal Brain Female	brain
49	chr14:64061200-64062200	ZNF genes & repeats	Fetal Stomach	stomach
50	chr14:64061200-64062200	ZNF genes & repeats	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

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