Variant report

Variant	nsv1375
Chromosome Location	chr14:82116362-82138158
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:74)
CpG islands
(count:122)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:74 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:82122168-82122570	HepG2	liver:	n/a	n/a
2	ARID3A	chr14:82129357-82129431	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:82121682-82122013	A549	lung:	n/a	chr14:82121842-82121853
4	CEBPB	chr14:82121788-82122026	H1-hESC	embryonic stem cell:	n/a	chr14:82121842-82121853
5	CEBPB	chr14:82121750-82122172	K562	blood:	n/a	chr14:82121842-82121853
6	CEBPB	chr14:82121675-82122026	IMR90	lung:	n/a	chr14:82121842-82121853
7	CEBPB	chr14:82121662-82122593	HepG2	liver:	n/a	chr14:82121842-82121853
8	CTCF	chr14:82136680-82136830	Caco-2	colon:	n/a	n/a
9	CTCF	chr14:82136640-82136790	GM12871	blood:	n/a	n/a
10	CTCF	chr14:82136416-82136418	GM10248	blood:	n/a	n/a
11	CTCF	chr14:82135469-82135487	ProgFib	skin:	n/a	n/a
12	CTCF	chr14:82136680-82136830	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:82135955-82136046	GM20000	blood:	n/a	n/a
14	EBF1	chr14:82135896-82136132	GM12878	blood:	n/a	n/a
15	EBF1	chr14:82135935-82136186	GM12878	blood:	n/a	n/a
16	EBF1	chr14:82136690-82136806	GM12878	blood:	n/a	chr14:82136719-82136730
17	FOS	chr14:82122251-82122789	MCF10A-Er-Src	breast:	n/a	chr14:82122713-82122722 chr14:82122760-82122774
18	FOS	chr14:82121244-82121437	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr14:82122272-82122881	MCF10A-Er-Src	breast:	n/a	chr14:82122713-82122722 chr14:82122760-82122774
20	FOXA1	chr14:82122269-82122592	HepG2	liver:	n/a	chr14:82122346-82122358 chr14:82122338-82122350
21	FOXA1	chr14:82122319-82122606	HepG2	liver:	n/a	chr14:82122346-82122358 chr14:82122338-82122350
22	FOXA1	chr14:82135747-82136194	HepG2	liver:	n/a	n/a
23	GATA3	chr14:82126234-82126555	T-47D	breast:	n/a	n/a
24	GATA3	chr14:82126291-82126576	T-47D	breast:	n/a	n/a
25	JUN	chr14:82122259-82122566	HepG2	liver:	n/a	n/a
26	JUND	chr14:82122273-82122609	HepG2	liver:	n/a	n/a
27	JUND	chr14:82126797-82126800	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFF	chr14:82129200-82129400	K562	blood:	n/a	n/a
29	MAFF	chr14:82129094-82129446	HepG2	liver:	n/a	n/a
30	MAFK	chr14:82129205-82129305	Hela-S3	cervix:	n/a	n/a
31	MAFK	chr14:82129091-82129450	HepG2	liver:	n/a	n/a
32	MAFK	chr14:82134625-82134639	HepG2	liver:	n/a	n/a
33	MAFK	chr14:82129096-82129448	HepG2	liver:	n/a	n/a
34	MAFK	chr14:82129107-82129432	IMR90	lung:	n/a	n/a
35	MAX	chr14:82122008-82122236	H1-hESC	embryonic stem cell:	n/a	chr14:82122140-82122150
36	MAX	chr14:82121991-82122191	NB4	blood:	n/a	chr14:82122140-82122150
37	MAX	chr14:82122018-82122202	HepG2	liver:	n/a	chr14:82122140-82122150
38	MAZ	chr14:82122109-82122442	HepG2	liver:	n/a	n/a
39	MYC	chr14:82135052-82135177	MCF-7	breast:	n/a	n/a
40	NFYA	chr14:82134399-82134853	K562	blood:	n/a	chr14:82134629-82134647
41	NFYB	chr14:82134359-82134908	K562	blood:	n/a	n/a
42	NFYB	chr14:82134441-82134901	GM12878	blood:	n/a	n/a
43	POLR2A	chr14:82124960-82125157	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr14:82121960-82122113	MCF-7	breast:	n/a	n/a
45	POLR2A	chr14:82135442-82135483	MCF-7	breast:	n/a	n/a
46	POLR2A	chr14:82135005-82135075	MCF-7	breast:	n/a	n/a
47	POLR2A	chr14:82135103-82135356	MCF-7	breast:	n/a	n/a
48	POLR2A	chr14:82135511-82135533	MCF-7	breast:	n/a	n/a
49	POLR2A	chr14:82134925-82135072	GM12878	blood:	n/a	n/a
50	POLR2A	chr14:82123384-82123537	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:82124963-82125013	Hepatocyte	liver:	n/a
2	chr14:82124963-82125013	HCPEpiC	choroid plexus:	n/a
3	chr14:82124963-82125013	H1-hESC	embryonic stem cell:	embryo
4	chr14:82124963-82125013	HCF	heart:	n/a
5	chr14:82124963-82125013	HRE	kidney:	n/a
6	chr14:82124963-82125013	HCT-116	colon:	n/a
7	chr14:82135353-82135403	GM19239	blood:	n/a
8	chr14:82124963-82125013	GM12892	blood:	n/a
9	chr14:82124963-82125013	MCF-7	breast:	n/a
10	chr14:82124963-82125013	AG04449	skin:	fetal
11	chr14:82124963-82125013	AG04450	lung:	fetal
12	chr14:82124963-82125013	PANC-1	pancreas:	n/a
13	chr14:82135353-82135403	NB4	blood:	n/a
14	chr14:82135353-82135403	T-47D	breast:	n/a
15	chr14:82135353-82135403	AG09309	skin:	n/a
16	chr14:82135353-82135403	LNCaP	prostate:	n/a
17	chr14:82135353-82135403	HRCEpiC	kidney:	n/a
18	chr14:82135353-82135403	HMEC	breast:	n/a
19	chr14:82124963-82125013	PFSK-1	brain:	n/a
20	chr14:82135353-82135403	BJ	skin:	n/a
21	chr14:82124963-82125013	AG10803	skin:	n/a
22	chr14:82135353-82135403	HepG2	liver:	n/a
23	chr14:82124963-82125013	GM06990	blood:	n/a
24	chr14:82135353-82135403	HCF	heart:	n/a
25	chr14:82124963-82125013	AG09309	skin:	n/a
26	chr14:82135353-82135403	GM12878	blood:	n/a
27	chr14:82135353-82135403	RPTEC	kidney:	n/a
28	chr14:82124963-82125013	AoSMC	blood vessel:	n/a
29	chr14:82124963-82125013	HEK293	kidney:	embryo
30	chr14:82135353-82135403	A549	lung:	n/a
31	chr14:82135353-82135403	HUVEC	blood vessel:	n/a
32	chr14:82124963-82125013	Jurkat	blood:	n/a
33	chr14:82135353-82135403	AG04449	skin:	fetal
34	chr14:82135353-82135403	PFSK-1	brain:	n/a
35	chr14:82135353-82135403	ovcar-3	ovarian:	n/a
36	chr14:82135353-82135403	H1-hESC	embryonic stem cell:	embryo
37	chr14:82135353-82135403	BE2_C	brain:	n/a
38	chr14:82124963-82125013	HPAEpiC	pulmonary alveolar:	n/a
39	chr14:82135353-82135403	HCPEpiC	choroid plexus:	n/a
40	chr14:82124963-82125013	HRPEpiC	eye:	n/a
41	chr14:82135353-82135403	PANC-1	pancreas:	n/a
42	chr14:82124963-82125013	HEEpiC	esophagus:	n/a
43	chr14:82124963-82125013	ovcar-3	ovarian:	n/a
44	chr14:82135353-82135403	GM06990	blood:	n/a
45	chr14:82135353-82135403	PrEC	prostate:	n/a
46	chr14:82135353-82135403	NHBE	bronchial:	n/a
47	chr14:82135353-82135403	ProgFib	skin:	n/a
48	chr14:82135353-82135403	MCF-7	breast:	n/a
49	chr14:82135353-82135403	CMK	blood:	n/a
50	chr14:82124963-82125013	AG09319	gingival:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:82134770..82137572-chr20:47128262..47129981,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258841	TF binding region
ENSG00000258841	CpG island

Extended variants
information (count: 723 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:723 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs141711377	chr14:82120223-82120224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs145574807	chr14:82120247-82120248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61580056	chr14:82120252-82120253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs111844646	chr14:82120325-82120326	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs547629347	chr14:82120330-82120331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116868913	chr14:82120382-82120383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs371651345	chr14:82120409-82120410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548667530	chr14:82120426-82120427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs570426532	chr14:82120434-82120435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117243829	chr14:82120479-82120480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs537412017	chr14:82120491-82120492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556058296	chr14:82120546-82120547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138087557	chr14:82120563-82120564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78449749	chr14:82120603-82120604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs115729660	chr14:82120638-82120639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529430644	chr14:82120646-82120647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs182820482	chr14:82120660-82120661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543171531	chr14:82120707-82120708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555085258	chr14:82120708-82120709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs576522170	chr14:82120781-82120782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs568247029	chr14:82120810-82120811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs142353764	chr14:82120857-82120858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553548139	chr14:82120921-82120922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375408552	chr14:82120981-82120982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs565577609	chr14:82120996-82120997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575222963	chr14:82121048-82121049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532655246	chr14:82121094-82121095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541704245	chr14:82121114-82121115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs67742323	chr14:82121168-82121169	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs533989722	chr14:82121189-82121190	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558643161	chr14:82121213-82121214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs371279834	chr14:82121262-82121263	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs112525472	chr14:82121280-82121281	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs77337925	chr14:82121312-82121313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs76032469	chr14:82121321-82121322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10143491	chr14:82121327-82121328	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs575026526	chr14:82121384-82121385	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112066408	chr14:82121407-82121408	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569407316	chr14:82121411-82121412	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375922737	chr14:82121412-82121413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12589197	chr14:82121436-82121437	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs141801663	chr14:82121441-82121442	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371379405	chr14:82121445-82121446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191992027	chr14:82121460-82121461	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs116597234	chr14:82121468-82121469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs3920573	chr14:82121469-82121470	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536416638	chr14:82121488-82121489	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552166343	chr14:82121493-82121494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535761106	chr14:82121497-82121498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs5810045	chr14:82121513-82121514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

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
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Gastric cancer	16891809	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:82120200-82122200	Enhancers	Fetal Lung	lung
2	chr14:82120600-82120800	Enhancers	Aorta	Aorta
3	chr14:82120800-82122000	Weak transcription	Aorta	Aorta
4	chr14:82121600-82122200	Enhancers	Fetal Muscle Trunk	muscle
5	chr14:82121800-82122000	Enhancers	Brain Hippocampus Middle	brain
6	chr14:82121800-82122800	Enhancers	Liver	Liver
7	chr14:82121800-82123800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr14:82121800-82124800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr14:82122000-82122200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr14:82122000-82122200	Enhancers	Aorta	Aorta
11	chr14:82122000-82122200	Enhancers	Right Atrium	heart
12	chr14:82122000-82122600	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:82122000-82122600	Enhancers	Fetal Kidney	kidney
14	chr14:82122000-82122600	Enhancers	Right Ventricle	heart
15	chr14:82122000-82122800	Enhancers	Ovary	ovary
16	chr14:82122000-82123000	Enhancers	Adipose Nuclei	Adipose
17	chr14:82122000-82124000	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:82122200-82122400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:82122200-82122600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:82122200-82122600	Enhancers	Brain Anterior Caudate	brain
21	chr14:82122200-82122800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:82122200-82122800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:82122200-82122800	Weak transcription	Aorta	Aorta
24	chr14:82122200-82123200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr14:82122200-82123200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr14:82122200-82124600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr14:82122200-82124800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:82122400-82122600	Enhancers	Brain Substantia Nigra	brain
29	chr14:82122400-82122800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:82122400-82123400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr14:82122400-82123600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:82122400-82124600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr14:82122600-82122800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr14:82122600-82123400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr14:82122600-82123400	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:82122600-82124800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr14:82122800-82123000	Active TSS	Brain Hippocampus Middle	brain
38	chr14:82122800-82123200	Weak transcription	Brain Substantia Nigra	brain
39	chr14:82122800-82123400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:82122800-82123400	Active TSS	Brain Anterior Caudate	brain
41	chr14:82122800-82123600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:82122800-82123600	Enhancers	Aorta	Aorta
43	chr14:82122800-82123600	Active TSS	Ovary	ovary
44	chr14:82123000-82123400	Active TSS	Adipose Nuclei	Adipose
45	chr14:82123000-82123400	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr14:82123000-82123400	Active TSS	Right Atrium	heart
47	chr14:82123000-82123600	Flanking Active TSS	Brain Hippocampus Middle	brain
48	chr14:82123200-82123800	Enhancers	Brain Substantia Nigra	brain
49	chr14:82123200-82126200	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:82123400-82123600	Enhancers	H1 Cell Line	embryonic stem cell

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