Variant report

Variant	nsv564958
Chromosome Location	chr14:67429672-67453393
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	BATF	chr14:67446182-67446668	GM12878	blood:	n/a	n/a
2	BATF	chr14:67446173-67446665	GM12878	blood:	n/a	n/a
3	CEBPB	chr14:67437483-67437782	HepG2	liver:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
4	CEBPB	chr14:67444454-67444482	HepG2	liver:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
5	CEBPB	chr14:67437467-67437762	A549	lung:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
6	CEBPB	chr14:67444408-67444532	K562	blood:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
7	CEBPB	chr14:67437473-67437722	K562	blood:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
8	CEBPB	chr14:67453038-67453359	MCF-7	breast:	n/a	n/a
9	CEBPB	chr14:67453000-67453442	MCF-7	breast:	n/a	n/a
10	CHD1	chr14:67451927-67451950	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:67431934-67432005	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:67433120-67433270	NHDF-neo	bronchial:	n/a	n/a
13	E2F4	chr14:67441149-67441791	MCF10A-Er-Src	breast:	n/a	n/a
14	E2F4	chr14:67432516-67432524	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr14:67441355-67441667	SK-N-SH_RA	brain:	n/a	n/a
16	EP300	chr14:67441207-67441808	SK-N-SH	brain:	n/a	n/a
17	EP300	chr14:67432595-67432878	SK-N-SH_RA	brain:	n/a	n/a
18	EP300	chr14:67432567-67432997	SK-N-SH	brain:	n/a	n/a
19	EP300	chr14:67441105-67441893	SK-N-SH	brain:	n/a	n/a
20	EP300	chr14:67432616-67432924	SK-N-SH_RA	brain:	n/a	n/a
21	EP300	chr14:67453000-67453329	T-47D	breast:	n/a	n/a
22	EP300	chr14:67441215-67441856	ECC-1	luminal epithelium:	n/a	n/a
23	EP300	chr14:67441416-67441671	SK-N-SH_RA	brain:	n/a	n/a
24	EP300	chr14:67441207-67441921	SK-N-SH	brain:	n/a	n/a
25	EP300	chr14:67434661-67434821	K562	blood:	n/a	chr14:67434748-67434762
26	FOS	chr14:67432591-67432880	MCF10A-Er-Src	breast:	n/a	chr14:67432749-67432759
27	FOS	chr14:67441406-67441724	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
28	FOS	chr14:67432578-67432778	MCF10A-Er-Src	breast:	n/a	chr14:67432749-67432759
29	FOS	chr14:67441370-67441709	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
30	FOS	chr14:67441370-67441699	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
31	FOS	chr14:67441431-67441684	HUVEC	blood vessel:	n/a	chr14:67441557-67441568
32	FOS	chr14:67432679-67432856	MCF10A-Er-Src	breast:	n/a	chr14:67432749-67432759
33	FOS	chr14:67441362-67441726	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
34	FOSL2	chr14:67441220-67441782	SK-N-SH	brain:	n/a	n/a
35	FOSL2	chr14:67432556-67432992	SK-N-SH	brain:	n/a	chr14:67432749-67432759
36	FOSL2	chr14:67441304-67441698	SK-N-SH	brain:	n/a	n/a
37	FOXA1	chr14:67452947-67453334	T-47D	breast:	n/a	n/a
38	FOXM1	chr14:67441259-67441824	ECC-1	luminal epithelium:	n/a	n/a
39	GATA2	chr14:67445953-67446208	SH-SY5Y	brain:	n/a	n/a
40	GATA3	chr14:67441103-67441920	A549	lung:	n/a	n/a
41	GATA3	chr14:67441218-67441876	SK-N-SH	brain:	n/a	n/a
42	GATA3	chr14:67453005-67453430	MCF-7	breast:	n/a	chr14:67453369-67453380
43	GATA3	chr14:67445685-67446355	SK-N-SH	brain:	n/a	n/a
44	GATA3	chr14:67432385-67433189	SK-N-SH	brain:	n/a	n/a
45	GATA3	chr14:67452978-67453365	T-47D	breast:	n/a	n/a
46	GATA3	chr14:67432425-67433091	SK-N-SH	brain:	n/a	n/a
47	GATA3	chr14:67445715-67446345	SK-N-SH	brain:	n/a	n/a
48	GATA3	chr14:67441139-67441854	SK-N-SH	brain:	n/a	n/a
49	GATA3	chr14:67452879-67453576	MCF-7	breast:	n/a	chr14:67453369-67453380
50	GATA3	chr14:67429464-67429939	MCF-7	breast:	n/a	chr14:67429714-67429721 chr14:67429700-67429707 chr14:67429714-67429721 chr14:67429714-67429721 chr14:67429714-67429723 chr14:67429710-67429726 chr14:67429707-67429728

No.	Distal block	Cell Line	Cell type
1	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
2	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
3	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
4	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
5	chr14:67447429..67450664-chr14:67451355..67453565,3	MCF-7	breast:
6	chr14:67449084..67450996-chr14:67459728..67461438,2	MCF-7	breast:
7	chr14:67452240..67454374-chr14:67454933..67457036,2	K562	blood:
8	chr14:67448510..67450063-chr14:67450561..67453014,2	MCF-7	breast:
9	chr14:67434832..67436768-chr14:67437010..67439165,2	MCF-7	breast:
10	chr14:67444463..67446896-chr14:67451565..67453172,2	MCF-7	breast:
11	chr14:67399698..67402646-chr14:67452739..67454975,2	MCF-7	breast:
12	chr14:67440552..67442279-chr14:67447848..67450195,2	K562	blood:
13	chr14:67429713..67432459-chr14:67435741..67437652,2	K562	blood:
14	chr14:67347067..67349521-chr14:67447070..67449089,2	MCF-7	breast:
15	chr14:67441668..67442528-chr16:8599431..8600259,2	NB4	blood:
16	chr14:67433076..67434830-chr14:67437019..67438976,2	MCF-7	breast:
17	chr14:67433076..67434830-chr14:67437019..67438976,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1D-2	chr14:67435755-67436127	ENSG00000258490.1
2	lnc-ATP6V1D-2	chr14:67436393-67436533	ENSG00000258490.1

Variant related genes	Relation type
ENSG00000258490	TF binding region
ENSG00000258490	chromatin interactions

Extended variants
information (count: 713 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:713 , 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	rs536230082	chr14:67429681-67429682	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554641525	chr14:67429782-67429783	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs572966619	chr14:67429792-67429793	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs533924468	chr14:67429833-67429834	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374719569	chr14:67429841-67429842	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs558674273	chr14:67429946-67429947	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs369659371	chr14:67429979-67429980	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs576975429	chr14:67429981-67429982	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372029114	chr14:67429991-67429992	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs544460444	chr14:67430002-67430003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs190934866	chr14:67430013-67430014	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs183514301	chr14:67430042-67430043	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541180784	chr14:67430068-67430069	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs146972019	chr14:67430088-67430089	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs541810434	chr14:67430089-67430090	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs560160252	chr14:67430099-67430100	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs527732587	chr14:67430148-67430149	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs552259764	chr14:67430167-67430168	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs564665141	chr14:67430202-67430203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs187947631	chr14:67430224-67430225	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550375950	chr14:67430234-67430235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs377374458	chr14:67430252-67430253	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs533305469	chr14:67430277-67430278	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs568646011	chr14:67430306-67430307	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs34634580	chr14:67430322-67430323	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545308256	chr14:67430418-67430419	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs192435987	chr14:67430467-67430468	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs548207486	chr14:67430521-67430522	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs563700957	chr14:67430527-67430528	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs530903852	chr14:67430563-67430564	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs549222763	chr14:67430669-67430670	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375985901	chr14:67430720-67430721	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs563115666	chr14:67430737-67430738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111831966	chr14:67430761-67430762	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs147590508	chr14:67430762-67430763	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs561391534	chr14:67430769-67430770	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs551561213	chr14:67430854-67430855	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs537623872	chr14:67430857-67430858	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs548027169	chr14:67430860-67430861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs7146942	chr14:67430862-67430863	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs574387412	chr14:67430871-67430872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs537794430	chr14:67430895-67430896	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs139534110	chr14:67430935-67430936	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs546839312	chr14:67430947-67430948	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs117137932	chr14:67430969-67430970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs527675278	chr14:67430977-67430978	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150668239	chr14:67431051-67431052	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs35087303	chr14:67431055-67431056	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs116561925	chr14:67431073-67431074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs572121962	chr14:67431120-67431121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67414200-67431800	Weak transcription	Hela-S3	cervix
2	chr14:67414200-67433600	Weak transcription	Brain Angular Gyrus	brain
3	chr14:67414400-67434600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr14:67414800-67443800	Weak transcription	Fetal Stomach	stomach
5	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr14:67415600-67439200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
8	chr14:67415800-67438200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
10	chr14:67418000-67491400	Weak transcription	Ovary	ovary
11	chr14:67424800-67456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
13	chr14:67425400-67432600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:67426200-67446000	Weak transcription	Fetal Kidney	kidney
15	chr14:67426600-67431600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:67426800-67432000	Weak transcription	Brain Anterior Caudate	brain
17	chr14:67426800-67432000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:67426800-67436800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr14:67426800-67438800	Weak transcription	Dnd41	blood
20	chr14:67427000-67432200	Weak transcription	Brain Substantia Nigra	brain
21	chr14:67427000-67460800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:67427200-67433600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr14:67427400-67453000	Weak transcription	Psoas Muscle	Psoas
24	chr14:67427600-67436200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:67427600-67464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:67427800-67431800	Weak transcription	Adipose Nuclei	Adipose
28	chr14:67427800-67459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:67428000-67431400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:67428000-67454000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr14:67428600-67431800	Weak transcription	GM12878-XiMat	blood
32	chr14:67428600-67439200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr14:67428800-67432800	Strong transcription	Liver	Liver
34	chr14:67428800-67433400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr14:67429600-67431800	Weak transcription	Lung	lung
36	chr14:67429600-67434200	Weak transcription	Right Ventricle	heart
37	chr14:67429800-67469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:67430200-67431200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:67431000-67439400	Weak transcription	Esophagus	oesophagus
40	chr14:67431200-67431400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr14:67431200-67437600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:67431200-67438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr14:67431400-67432000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:67431400-67432600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr14:67431600-67432800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:67431800-67432200	Strong transcription	Lung	lung
47	chr14:67431800-67432600	Strong transcription	GM12878-XiMat	blood
48	chr14:67431800-67432800	Strong transcription	Adipose Nuclei	Adipose
49	chr14:67432000-67432400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:67432000-67432400	Strong transcription	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links