Variant report

Variant	nsv976357
Chromosome Location	chr14:78148706-78150357
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr14:78148513-78148932	HepG2	liver:	n/a	chr14:78148702-78148711 chr14:78148703-78148712
2	FOS	chr14:78148250-78148898	MCF10A-Er-Src	breast:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
3	FOS	chr14:78148105-78148899	HUVEC	blood vessel:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
4	FOS	chr14:78148517-78148899	MCF10A-Er-Src	breast:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
5	FOS	chr14:78148356-78148902	MCF10A-Er-Src	breast:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
6	FOS	chr14:78148504-78148896	MCF10A-Er-Src	breast:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
7	FOSL2	chr14:78148568-78148902	HepG2	liver:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148700-78148711 chr14:78148703-78148710 chr14:78148702-78148711
8	FOSL2	chr14:78148437-78148871	A549	lung:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148700-78148711 chr14:78148703-78148710 chr14:78148702-78148711
9	FOSL2	chr14:78148533-78148819	HepG2	liver:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148700-78148711 chr14:78148703-78148710 chr14:78148702-78148711
10	FOSL2	chr14:78148474-78148935	MCF-7	breast:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148700-78148711 chr14:78148703-78148710 chr14:78148702-78148711
11	FOXA1	chr14:78148470-78148962	HepG2	liver:	n/a	n/a
12	FOXA1	chr14:78148337-78148865	A549	lung:	n/a	n/a
13	FOXA1	chr14:78147989-78148805	A549	lung:	n/a	n/a
14	FOXA1	chr14:78148439-78148819	HepG2	liver:	n/a	n/a
15	FOXA2	chr14:78148553-78148815	HepG2	liver:	n/a	n/a
16	FOXA2	chr14:78148493-78148921	A549	lung:	n/a	n/a
17	GATA3	chr14:78147594-78148884	MCF-7	breast:	n/a	chr14:78147642-78147649 chr14:78147908-78147918 chr14:78147908-78147917 chr14:78147624-78147635 chr14:78148701-78148710
18	HNF4A	chr14:78148631-78148762	HepG2	liver:	n/a	chr14:78148712-78148720
19	JUN	chr14:78148570-78148870	HepG2	liver:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148703-78148710 chr14:78148702-78148711
20	JUND	chr14:78148597-78148793	HepG2	liver:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
21	JUND	chr14:78147889-78149000	SK-N-SH	brain:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
22	JUND	chr14:78148395-78148900	HepG2	liver:	n/a	chr14:78148703-78148711 chr14:78148704-78148715 chr14:78148701-78148712 chr14:78148703-78148710 chr14:78148702-78148711
23	MAFK	chr14:78148166-78148750	HepG2	liver:	n/a	n/a
24	MEF2A	chr14:78148422-78148979	SK-N-SH	brain:	n/a	n/a
25	MYBL2	chr14:78148048-78148801	HepG2	liver:	n/a	n/a
26	MYC	chr14:78148503-78148891	MCF10A-Er-Src	breast:	n/a	chr14:78148703-78148712
27	POLR2A	chr14:78150251-78150253	HepG2	liver:	n/a	n/a
28	POLR2A	chr14:78149751-78149880	K562	blood:	n/a	n/a
29	POLR2A	chr14:78148604-78148788	MCF10A-Er-Src	breast:	n/a	n/a
30	RUNX3	chr14:78148522-78148789	GM12878	blood:	n/a	chr14:78148710-78148727 chr14:78148718-78148727 chr14:78148718-78148727
31	STAT3	chr14:78148606-78148823	MCF10A-Er-Src	breast:	n/a	chr14:78148702-78148711 chr14:78148703-78148712 chr14:78148729-78148736
32	STAT3	chr14:78148586-78148837	MCF10A-Er-Src	breast:	n/a	chr14:78148702-78148711 chr14:78148703-78148712 chr14:78148729-78148736
33	STAT3	chr14:78148561-78148776	MCF10A-Er-Src	breast:	n/a	chr14:78148702-78148711 chr14:78148703-78148712 chr14:78148729-78148736

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78145857..78148967-chr14:78171085..78175520,5	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SNW1-6	chr14:78150215-78150332	NONHSAT037999
2	lnc-SNW1-6	chr14:78149545-78149916	NONHSAT037999

Variant related genes	Relation type
RPL21P10	TF binding region
ENSG00000100601	chromatin interactions
ENSG00000119705	chromatin interactions

Extended variants
information (count: 76 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:76 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543971996	chr14:78148730-78148731	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs561174764	chr14:78148768-78148769	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs574299715	chr14:78148792-78148793	Weak transcription Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs560436827	chr14:78148872-78148873	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs374501317	chr14:78148902-78148903	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs142687471	chr14:78148910-78148911	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs111371607	chr14:78148944-78148945	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs565110947	chr14:78148949-78148950	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs531080560	chr14:78149025-78149026	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76924326	chr14:78149042-78149043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs180933431	chr14:78149064-78149065	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2267764	chr14:78149072-78149073	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs547181527	chr14:78149103-78149104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs567208413	chr14:78149109-78149110	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs111689743	chr14:78149112-78149113	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141587486	chr14:78149197-78149198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs144493773	chr14:78149206-78149207	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs184977678	chr14:78149238-78149239	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554369431	chr14:78149270-78149271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189639852	chr14:78149287-78149288	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs148439883	chr14:78149288-78149289	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs367995214	chr14:78149300-78149301	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576755330	chr14:78149348-78149349	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545774202	chr14:78149352-78149353	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs181998141	chr14:78149356-78149357	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs530815822	chr14:78149357-78149358	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550925886	chr14:78149407-78149408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186232651	chr14:78149473-78149474	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs2267765	chr14:78149486-78149487	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs34921168	chr14:78149492-78149493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs576355746	chr14:78149493-78149494	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76379834	chr14:78149511-78149512	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs74864812	chr14:78149512-78149513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs59979301	chr14:78149513-78149514	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547246670	chr14:78149549-78149550	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
36	rs78963892	chr14:78149563-78149564	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
37	rs141936659	chr14:78149586-78149587	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
38	rs117466773	chr14:78149622-78149623	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
39	rs150674133	chr14:78149660-78149661	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
40	rs575429175	chr14:78149661-78149662	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
41	rs149268644	chr14:78149674-78149675	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
42	rs542331539	chr14:78149681-78149682	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
43	rs10483884	chr14:78149694-78149695	Weak transcription Strong transcription Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs572737109	chr14:78149718-78149719	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs532192565	chr14:78149731-78149732	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs540111526	chr14:78149736-78149737	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191582108	chr14:78149746-78149747	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs574226485	chr14:78149748-78149749	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs368899486	chr14:78149774-78149775	Weak transcription Strong transcription Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs533620798	chr14:78149820-78149821	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Hepatocellular carcinoma	16750200	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	21922591	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Myelofibrosis	22110671	CNVD
Biliary cancer	19435499	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Intracranial aneurysm	16715129	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	21364760	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22209245	CNVD
Prostate cancer	22553170	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:189 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78127400-78173200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:78128000-78157800	Weak transcription	Fetal Brain Male	brain
3	chr14:78134400-78163400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:78135200-78156200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr14:78136200-78162800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:78137800-78161200	Weak transcription	Fetal Heart	heart
7	chr14:78138000-78171800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr14:78138200-78154400	Strong transcription	Dnd41	blood
9	chr14:78140200-78156600	Weak transcription	K562	blood
10	chr14:78140400-78157800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr14:78140400-78160400	Weak transcription	Fetal Kidney	kidney
12	chr14:78140400-78172400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:78140600-78158600	Weak transcription	Esophagus	oesophagus
14	chr14:78140600-78173200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:78141200-78153600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr14:78141200-78160400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:78141200-78162800	Weak transcription	Colonic Mucosa	Colon
18	chr14:78141400-78156400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:78141400-78156600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:78141400-78157400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:78141600-78155800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78141600-78156600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr14:78142200-78156600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:78142200-78157600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr14:78142200-78161200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:78142400-78154200	Weak transcription	GM12878-XiMat	blood
27	chr14:78142600-78162200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:78142600-78162800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr14:78142800-78148800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr14:78142800-78155800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr14:78143000-78152600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr14:78143800-78149400	Weak transcription	Thymus	Thymus
33	chr14:78145000-78151000	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr14:78145400-78158600	Weak transcription	Spleen	Spleen
35	chr14:78146200-78150200	Weak transcription	Fetal Muscle Leg	muscle
36	chr14:78146200-78152800	Weak transcription	Brain Germinal Matrix	brain
37	chr14:78146400-78149200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:78146400-78150200	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr14:78146400-78150400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr14:78146400-78152600	Weak transcription	Fetal Brain Female	brain
41	chr14:78146400-78153400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr14:78146400-78157800	Weak transcription	Fetal Lung	lung
43	chr14:78146400-78160000	Weak transcription	Brain Hippocampus Middle	brain
44	chr14:78146400-78161800	Weak transcription	Cortex derived primary cultured neurospheres	brain
45	chr14:78146600-78149200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:78146600-78150200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr14:78146600-78150200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr14:78146600-78150400	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:78146600-78150400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:78146600-78153200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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