Variant report

Variant	nsv1051249
Chromosome Location	chr14:55923962-55961635
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	ATF1	chr14:55936899-55937089	K562	blood:	n/a	n/a
2	ATF2	chr14:55925406-55926072	GM12878	blood:	n/a	n/a
3	ATF2	chr14:55925395-55925997	GM12878	blood:	n/a	n/a
4	BATF	chr14:55925499-55926006	GM12878	blood:	n/a	n/a
5	BATF	chr14:55925457-55926073	GM12878	blood:	n/a	n/a
6	BCL11A	chr14:55925473-55925886	GM12878	blood:	n/a	n/a
7	BCL11A	chr14:55925432-55926028	GM12878	blood:	n/a	n/a
8	BCL3	chr14:55924201-55924609	GM12878	blood:	n/a	n/a
9	BCL3	chr14:55925453-55925988	GM12878	blood:	n/a	n/a
10	BHLHE40	chr14:55925584-55926069	GM12878	blood:	n/a	n/a
11	CBX3	chr14:55925453-55926145	HCT-116	colon:	n/a	n/a
12	CEBPB	chr14:55936843-55937080	IMR90	lung:	n/a	chr14:55936937-55936950 chr14:55936937-55936948 chr14:55936937-55936950 chr14:55936938-55936949
13	CEBPB	chr14:55937780-55937995	HepG2	liver:	n/a	n/a
14	CEBPB	chr14:55927343-55927564	K562	blood:	n/a	chr14:55927402-55927413
15	CEBPB	chr14:55930818-55930820	A549	lung:	n/a	n/a
16	CEBPB	chr14:55936758-55937140	K562	blood:	n/a	chr14:55936937-55936950 chr14:55936937-55936948 chr14:55936937-55936950 chr14:55936938-55936949
17	CEBPB	chr14:55930820-55930912	K562	blood:	n/a	n/a
18	CEBPB	chr14:55927316-55927562	IMR90	lung:	n/a	chr14:55927402-55927413
19	CEBPB	chr14:55936861-55937053	K562	blood:	n/a	chr14:55936937-55936950 chr14:55936937-55936948 chr14:55936937-55936950 chr14:55936938-55936949
20	CEBPB	chr14:55936807-55937091	HepG2	liver:	n/a	chr14:55936937-55936950 chr14:55936937-55936948 chr14:55936937-55936950 chr14:55936938-55936949
21	CEBPB	chr14:55927365-55927567	HepG2	liver:	n/a	chr14:55927402-55927413
22	CEBPB	chr14:55937743-55937891	A549	lung:	n/a	n/a
23	CEBPB	chr14:55936859-55937049	K562	blood:	n/a	chr14:55936937-55936950 chr14:55936937-55936948 chr14:55936937-55936950 chr14:55936938-55936949
24	CEBPB	chr14:55925393-55926056	GM12878	blood:	n/a	n/a
25	CEBPB	chr14:55937793-55937999	IMR90	lung:	n/a	n/a
26	CEBPB	chr14:55936852-55937113	Hela-S3	cervix:	n/a	chr14:55936937-55936950 chr14:55936937-55936948 chr14:55936937-55936950 chr14:55936938-55936949
27	CTCF	chr14:55924401-55924456	MCF-7	breast:	n/a	n/a
28	CTCF	chr14:55924371-55924485	GM19239	blood:	n/a	n/a
29	CTCF	chr14:55935744-55935765	Kidney_OC	kidney:	n/a	n/a
30	CTCF	chr14:55961110-55961193	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr14:55960589-55960677	GM10248	blood:	n/a	n/a
32	E2F4	chr14:55928911-55929241	MCF10A-Er-Src	breast:	n/a	n/a
33	E2F4	chr14:55925557-55925962	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F4	chr14:55954118-55954120	MCF10A-Er-Src	breast:	n/a	n/a
35	E2F4	chr14:55936807-55936961	MCF10A-Er-Src	breast:	n/a	n/a
36	EBF1	chr14:55925478-55926025	GM12878	blood:	n/a	n/a
37	EP300	chr14:55925559-55925992	Hela-S3	cervix:	n/a	n/a
38	EP300	chr14:55925586-55925914	GM12878	blood:	n/a	n/a
39	EP300	chr14:55925395-55925975	GM12878	blood:	n/a	chr14:55925493-55925507 chr14:55925488-55925502
40	EP300	chr14:55925440-55926039	GM12878	blood:	n/a	chr14:55925493-55925507 chr14:55925488-55925502
41	FOS	chr14:55936793-55937103	MCF10A-Er-Src	breast:	n/a	n/a
42	FOS	chr14:55925453-55926109	HUVEC	blood vessel:	n/a	n/a
43	FOS	chr14:55925399-55926283	MCF10A-Er-Src	breast:	n/a	n/a
44	FOS	chr14:55957769-55957824	MCF10A-Er-Src	breast:	n/a	chr14:55957773-55957782
45	FOS	chr14:55930159-55930271	MCF10A-Er-Src	breast:	n/a	chr14:55930246-55930255
46	FOS	chr14:55930292-55930326	MCF10A-Er-Src	breast:	n/a	n/a
47	FOS	chr14:55925436-55926230	MCF10A-Er-Src	breast:	n/a	n/a
48	FOS	chr14:55936791-55937115	MCF10A-Er-Src	breast:	n/a	n/a
49	FOS	chr14:55925548-55926031	Hela-S3	cervix:	n/a	n/a
50	FOS	chr14:55936804-55937101	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:55935385..55938314-chr14:55948231..55949890,2	MCF-7	breast:
2	chr14:55932703..55935495-chr14:55937792..55940291,2	MCF-7	breast:
3	chr14:55930308..55932383-chr14:55934152..55936312,2	K562	blood:
4	chr14:55946573..55948131-chr14:56047906..56049458,2	K562	blood:
5	chr14:55936925..55938790-chr14:55938821..55940391,2	K562	blood:
6	chr14:55930308..55932383-chr14:55934152..55936312,2	K562	blood:
7	chr14:55947632..55950014-chr14:55951455..55953042,2	K562	blood:
8	chr14:55930242..55933239-chr14:55934431..55937260,2	MCF-7	breast:
9	chr14:55932703..55935495-chr14:55937792..55940291,2	MCF-7	breast:
10	chr14:55936925..55938790-chr14:55938821..55940391,2	K562	blood:
11	chr14:55947632..55950014-chr14:55951455..55953042,2	K562	blood:
12	chr14:55935385..55938314-chr14:55948231..55949890,2	MCF-7	breast:
13	chr14:55935959..55937646-chr14:55943697..55946148,2	K562	blood:
14	chr14:55934279..55936415-chr14:55944398..55946379,2	K562	blood:
15	chr14:55930242..55933239-chr14:55934431..55937260,2	MCF-7	breast:
16	chr14:55917476..55919752-chr14:55927927..55929751,2	MCF-7	breast:
17	chr14:55924018..55926617-chr14:55931310..55932885,2	K562	blood:
18	chr14:55924018..55926617-chr14:55931310..55932885,2	K562	blood:
19	chr14:55935959..55937646-chr14:55943697..55946148,2	K562	blood:
20	chr14:55934279..55936415-chr14:55944398..55946379,2	K562	blood:

Variant related genes	Relation type
TBPL2	TF binding region

Extended variants
information (count: 1026 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:1026 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10136199	chr14:55923962-55923963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs372221483	chr14:55923963-55923964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571889153	chr14:55924019-55924020	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs531798396	chr14:55924022-55924023	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs201244008	chr14:55924028-55924029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539033527	chr14:55924093-55924094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554166486	chr14:55924095-55924096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181362105	chr14:55924106-55924107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs185290810	chr14:55924107-55924108	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375861497	chr14:55924121-55924122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191074431	chr14:55924183-55924184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs111469634	chr14:55924325-55924326	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544118079	chr14:55924362-55924363	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs556419042	chr14:55924379-55924380	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs140764179	chr14:55924411-55924412	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs367932998	chr14:55924422-55924423	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs544912583	chr14:55924433-55924434	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34509040	chr14:55924436-55924437	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs527311958	chr14:55924441-55924442	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs542686841	chr14:55924444-55924445	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs563813393	chr14:55924472-55924473	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs115169597	chr14:55924480-55924481	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs182439907	chr14:55924534-55924535	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs550157195	chr14:55924587-55924588	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs187505061	chr14:55924589-55924590	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs145786019	chr14:55924631-55924632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551088500	chr14:55924660-55924661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs376103387	chr14:55924662-55924663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs369157145	chr14:55924675-55924676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs34720069	chr14:55924814-55924815	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs547104875	chr14:55924828-55924829	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs369021868	chr14:55924849-55924850	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs566054710	chr14:55924857-55924858	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567247771	chr14:55924898-55924899	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs138614496	chr14:55924908-55924909	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs192047217	chr14:55924973-55924974	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs76546580	chr14:55925064-55925065	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs141439786	chr14:55925087-55925088	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571004814	chr14:55925100-55925101	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs577433314	chr14:55925147-55925148	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs544876001	chr14:55925158-55925159	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs553679518	chr14:55925180-55925181	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs571694126	chr14:55925235-55925236	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs542300982	chr14:55925241-55925242	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs561037061	chr14:55925288-55925289	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs531263362	chr14:55925300-55925301	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs543518308	chr14:55925447-55925448	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs565449434	chr14:55925453-55925454	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs532779148	chr14:55925505-55925506	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs549855062	chr14:55925538-55925539	Weak transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Endometrioid adenocarcinoma	16974079	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
Hodgkin''s lymphoma	17606441	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	21633010	CNVD
Breast cancer	22032731	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Medulloblastoma	19270706	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	17603634	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:55921400-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr14:55921400-55925400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr14:55921600-55925000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr14:55921600-55925400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:55921600-55925600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr14:55921600-55925800	Weak transcription	HSMMtube	muscle
8	chr14:55921800-55925000	Weak transcription	GM12878-XiMat	blood
9	chr14:55921800-55925000	Weak transcription	HSMM	muscle
10	chr14:55921800-55925000	Weak transcription	NHDF-Ad	bronchial
11	chr14:55921800-55925200	Weak transcription	A549	lung
12	chr14:55921800-55925400	Weak transcription	NH-A	brain
13	chr14:55921800-55925400	Weak transcription	Osteobl	bone
14	chr14:55921800-55925600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr14:55921800-55925600	Weak transcription	Right Atrium	heart
16	chr14:55921800-55925800	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr14:55921800-55925800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:55921800-55925800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr14:55921800-55930000	Weak transcription	NHLF	lung
20	chr14:55921800-55933800	Weak transcription	Gastric	stomach
21	chr14:55922000-55924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:55922000-55925000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr14:55922000-55925000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:55922000-55925000	Weak transcription	HUVEC	blood vessel
25	chr14:55922000-55925800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:55922200-55924000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:55922200-55924200	Weak transcription	Fetal Heart	heart
28	chr14:55922200-55924600	Weak transcription	NHEK	skin
29	chr14:55922200-55925000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:55922200-55925200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:55922200-55929800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:55922400-55924000	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr14:55922400-55924400	Weak transcription	Hela-S3	cervix
34	chr14:55922400-55925000	Weak transcription	HMEC	breast
35	chr14:55922400-55925200	Weak transcription	Stomach Mucosa	stomach
36	chr14:55924000-55924200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:55924000-55924400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr14:55924000-55925200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr14:55924000-55926200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr14:55924200-55924600	Enhancers	Fetal Heart	heart
41	chr14:55924200-55925200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:55924400-55925400	Enhancers	Hela-S3	cervix
43	chr14:55924600-55926200	Enhancers	NHEK	skin
44	chr14:55925000-55925600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:55925000-55926200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:55925000-55926200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:55925000-55926200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr14:55925000-55926200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:55925000-55926200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr14:55925000-55926200	Enhancers	GM12878-XiMat	blood

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