Variant report

Variant	nsv564959
Chromosome Location	chr14:67435182-67456086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:85)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:85 , 50 per page) page: 1 2

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	chr14:67437473-67437722	K562	blood:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
4	CEBPB	chr14:67437467-67437762	A549	lung:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
5	CEBPB	chr14:67444454-67444482	HepG2	liver:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
6	CEBPB	chr14:67453000-67453442	MCF-7	breast:	n/a	n/a
7	CEBPB	chr14:67453038-67453359	MCF-7	breast:	n/a	n/a
8	CEBPB	chr14:67444408-67444532	K562	blood:	n/a	chr14:67444458-67444469 chr14:67444458-67444471
9	CEBPB	chr14:67437483-67437782	HepG2	liver:	n/a	chr14:67437608-67437621 chr14:67437609-67437620
10	CHD1	chr14:67451927-67451950	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F4	chr14:67453547-67453743	MCF10A-Er-Src	breast:	n/a	n/a
12	E2F4	chr14:67441149-67441791	MCF10A-Er-Src	breast:	n/a	n/a
13	EP300	chr14:67441416-67441671	SK-N-SH_RA	brain:	n/a	n/a
14	EP300	chr14:67441207-67441808	SK-N-SH	brain:	n/a	n/a
15	EP300	chr14:67441215-67441856	ECC-1	luminal epithelium:	n/a	n/a
16	EP300	chr14:67441355-67441667	SK-N-SH_RA	brain:	n/a	n/a
17	EP300	chr14:67441105-67441893	SK-N-SH	brain:	n/a	n/a
18	EP300	chr14:67441207-67441921	SK-N-SH	brain:	n/a	n/a
19	EP300	chr14:67453000-67453329	T-47D	breast:	n/a	n/a
20	FOS	chr14:67441370-67441699	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
21	FOS	chr14:67441370-67441709	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
22	FOS	chr14:67441362-67441726	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
23	FOS	chr14:67441406-67441724	MCF10A-Er-Src	breast:	n/a	chr14:67441557-67441568
24	FOS	chr14:67441431-67441684	HUVEC	blood vessel:	n/a	chr14:67441557-67441568
25	FOSL2	chr14:67441220-67441782	SK-N-SH	brain:	n/a	n/a
26	FOSL2	chr14:67441304-67441698	SK-N-SH	brain:	n/a	n/a
27	FOXA1	chr14:67452947-67453334	T-47D	breast:	n/a	n/a
28	FOXM1	chr14:67441259-67441824	ECC-1	luminal epithelium:	n/a	n/a
29	GATA2	chr14:67445953-67446208	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr14:67452978-67453365	T-47D	breast:	n/a	n/a
31	GATA3	chr14:67452879-67453576	MCF-7	breast:	n/a	chr14:67453369-67453380
32	GATA3	chr14:67441139-67441854	SK-N-SH	brain:	n/a	n/a
33	GATA3	chr14:67445685-67446355	SK-N-SH	brain:	n/a	n/a
34	GATA3	chr14:67445909-67446131	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr14:67453005-67453430	MCF-7	breast:	n/a	chr14:67453369-67453380
36	GATA3	chr14:67441218-67441876	SK-N-SH	brain:	n/a	n/a
37	GATA3	chr14:67441103-67441920	A549	lung:	n/a	n/a
38	GATA3	chr14:67445715-67446345	SK-N-SH	brain:	n/a	n/a
39	JUND	chr14:67441190-67441850	SK-N-SH	brain:	n/a	n/a
40	JUND	chr14:67452961-67453470	T-47D	breast:	n/a	n/a
41	JUND	chr14:67441187-67441870	SK-N-SH	brain:	n/a	n/a
42	KAP1	chr14:67454349-67454822	K562	blood:	n/a	n/a
43	MAFK	chr14:67443663-67443846	IMR90	lung:	n/a	n/a
44	MAFK	chr14:67446381-67446565	HepG2	liver:	n/a	n/a
45	MAFK	chr14:67443628-67443786	HepG2	liver:	n/a	n/a
46	MAX	chr14:67453645-67453661	NB4	blood:	n/a	chr14:67453646-67453656
47	MAZ	chr14:67455324-67455441	HepG2	liver:	n/a	n/a
48	MXI1	chr14:67444294-67444435	K562	blood:	n/a	n/a
49	MXI1	chr14:67447934-67448185	K562	blood:	n/a	n/a
50	MYC	chr14:67441485-67441705	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:16 , 50 per page) page: 1

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

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

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

No data

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

Extended variants
information (count: 627 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:627 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs8016725	chr14:67435182-67435183	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs554904846	chr14:67435197-67435198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573319618	chr14:67435207-67435208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs563170501	chr14:67435212-67435213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540700595	chr14:67435236-67435237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs559377409	chr14:67435345-67435346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs78926434	chr14:67435353-67435354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186437211	chr14:67435405-67435406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs542550413	chr14:67435426-67435427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561369294	chr14:67435473-67435474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs61163882	chr14:67435504-67435505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs190101892	chr14:67435520-67435521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs8018750	chr14:67435567-67435568	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs147851948	chr14:67435571-67435572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs567635214	chr14:67435644-67435645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528472956	chr14:67435651-67435652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs76862944	chr14:67435802-67435803	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs571703437	chr14:67435811-67435812	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs538800985	chr14:67435817-67435818	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs557481024	chr14:67435853-67435854	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs569362345	chr14:67435855-67435856	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs112386539	chr14:67435948-67435949	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs554866892	chr14:67435985-67435986	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs573231311	chr14:67435991-67435992	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs540609652	chr14:67435998-67435999	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs552735257	chr14:67435999-67436000	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs139721641	chr14:67436023-67436024	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs544782124	chr14:67436101-67436102	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs75787237	chr14:67436108-67436109	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs145265351	chr14:67436111-67436112	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs542871848	chr14:67436136-67436137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561150681	chr14:67436154-67436155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532579452	chr14:67436163-67436164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528434518	chr14:67436224-67436225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113185466	chr14:67436238-67436239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565137167	chr14:67436239-67436240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs150982494	chr14:67436242-67436243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs4592584	chr14:67436350-67436351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140791036	chr14:67436375-67436376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150109853	chr14:67436377-67436378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs544354554	chr14:67436385-67436386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145494113	chr14:67436433-67436434	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs1955604	chr14:67436440-67436441	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs560871478	chr14:67436522-67436523	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs530457612	chr14:67436529-67436530	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532719818	chr14:67436641-67436642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114069566	chr14:67436674-67436675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs140245788	chr14:67436727-67436728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577578860	chr14:67436739-67436740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs538696338	chr14:67436763-67436764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67414800-67443800	Weak transcription	Fetal Stomach	stomach
2	chr14:67414800-67480000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr14:67415600-67439200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:67415600-67486400	Weak transcription	Pancreas	Pancrea
5	chr14:67415800-67438200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr14:67416400-67491200	Weak transcription	Left Ventricle	heart
7	chr14:67418000-67491400	Weak transcription	Ovary	ovary
8	chr14:67424800-67456000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:67424800-67499000	Weak transcription	Aorta	Aorta
10	chr14:67426200-67446000	Weak transcription	Fetal Kidney	kidney
11	chr14:67426800-67436800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr14:67426800-67438800	Weak transcription	Dnd41	blood
13	chr14:67427000-67460800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr14:67427400-67453000	Weak transcription	Psoas Muscle	Psoas
15	chr14:67427600-67436200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:67427600-67464800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:67427600-67498800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr14:67427800-67459200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:67428000-67454000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:67428600-67439200	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr14:67429800-67469600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr14:67431000-67439400	Weak transcription	Esophagus	oesophagus
23	chr14:67431200-67437600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:67431200-67438800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr14:67432200-67437800	Weak transcription	Lung	lung
26	chr14:67432600-67437600	Weak transcription	GM12878-XiMat	blood
27	chr14:67432600-67441800	Weak transcription	Brain Substantia Nigra	brain
28	chr14:67432600-67454600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:67432800-67437800	Weak transcription	Liver	Liver
30	chr14:67432800-67438200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr14:67437200-67437800	Weak transcription	Fetal Intestine Small	intestine
32	chr14:67437600-67438000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:67437600-67438200	Strong transcription	GM12878-XiMat	blood
34	chr14:67437800-67438000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr14:67437800-67438000	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr14:67437800-67438000	ZNF genes & repeats	Lung	lung
37	chr14:67437800-67438600	Strong transcription	Liver	Liver
38	chr14:67438000-67439600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr14:67438000-67491400	Weak transcription	Fetal Intestine Small	intestine
40	chr14:67438200-67445800	Weak transcription	GM12878-XiMat	blood
41	chr14:67438600-67439800	Weak transcription	Liver	Liver
42	chr14:67439800-67440400	Strong transcription	Liver	Liver
43	chr14:67440400-67444800	Weak transcription	Liver	Liver
44	chr14:67440600-67442200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr14:67440600-67442400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr14:67440800-67442200	Enhancers	Osteobl	bone
47	chr14:67441200-67441800	Enhancers	A549	lung
48	chr14:67441200-67441800	Enhancers	NHEK	skin
49	chr14:67444800-67447000	Strong transcription	Liver	Liver
50	chr14:67445800-67446600	Enhancers	GM12878-XiMat	blood

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