Variant report

Variant	esv3369630
Chromosome Location	chr14:78221823-78222250
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	POLR2A	chr14:78222223-78222687	HepG2	liver:	n/a	n/a
2	POLR2A	chr14:78221819-78222212	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:78222067..78225484-chr14:78225871..78228638,3	K562	blood:
2	chr14:78221316..78225180-chr14:78225446..78228735,5	MCF-7	breast:
3	chr14:78208675..78210244-chr14:78222102..78225060,2	K562	blood:

Variant related genes	Relation type
C14orf178	TF binding region
ENSG00000100603	chromatin interactions
ENSG00000268208	chromatin interactions
ENSG00000197734	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116896764	chr14:78221830-78221831	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs531075535	chr14:78221876-78221877	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs544215857	chr14:78221889-78221890	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560701453	chr14:78221912-78221913	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs369977656	chr14:78222009-78222010	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs369816484	chr14:78222028-78222029	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs529851360	chr14:78222044-78222045	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs8016447	chr14:78222068-78222069	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs7494044	chr14:78222073-78222074	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs541710213	chr14:78222087-78222088	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs61404145	chr14:78222099-78222100	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs566722126	chr14:78222125-78222126	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs532350924	chr14:78222139-78222140	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs148334313	chr14:78222151-78222152	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs192400714	chr14:78222194-78222195	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs538027159	chr14:78222196-78222197	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs117735396	chr14:78222236-78222237	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs143606175	chr14:78222239-78222240	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Breast cancer	21509527	CNVD

Chromatin state (count:140 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78176200-78224000	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr14:78176200-78225400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr14:78176400-78223400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:78176400-78224200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr14:78176600-78223200	Strong transcription	Fetal Muscle Leg	muscle
6	chr14:78176600-78224200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:78176800-78222200	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr14:78177000-78222600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:78177000-78224200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:78177200-78223800	Strong transcription	Dnd41	blood
11	chr14:78177400-78222400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:78199000-78225200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:78199600-78225000	Weak transcription	Fetal Heart	heart
14	chr14:78201600-78226600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr14:78207000-78222000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr14:78207200-78222000	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr14:78207400-78223000	Strong transcription	Fetal Thymus	thymus
18	chr14:78207600-78222400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr14:78207600-78224800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr14:78207600-78225400	Strong transcription	Placenta	Placenta
21	chr14:78209800-78223000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr14:78210000-78223800	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr14:78210600-78222800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:78211400-78223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:78211400-78223800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr14:78212800-78222800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:78212800-78225600	Weak transcription	Stomach Mucosa	stomach
28	chr14:78214000-78223000	Strong transcription	Fetal Lung	lung
29	chr14:78214200-78222000	Strong transcription	Rectal Mucosa Donor 29	rectum
30	chr14:78214200-78222800	Strong transcription	Primary T cells from cord blood	blood
31	chr14:78214200-78226600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:78214400-78223600	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:78215000-78222800	Strong transcription	Fetal Intestine Large	intestine
34	chr14:78215200-78223400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr14:78215400-78223800	Strong transcription	Primary B cells from cord blood	blood
36	chr14:78215600-78223000	Strong transcription	Fetal Brain Female	brain
37	chr14:78216200-78223800	Weak transcription	Colon Smooth Muscle	Colon
38	chr14:78216400-78225000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr14:78216400-78225400	Weak transcription	Esophagus	oesophagus
40	chr14:78216600-78222200	Weak transcription	Psoas Muscle	Psoas
41	chr14:78216600-78224800	Weak transcription	Pancreas	Pancrea
42	chr14:78216800-78225200	Weak transcription	NHLF	lung
43	chr14:78217000-78225000	Weak transcription	HSMMtube	muscle
44	chr14:78217000-78226600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr14:78217400-78224800	Weak transcription	Brain Substantia Nigra	brain
46	chr14:78217600-78225200	Weak transcription	Gastric	stomach
47	chr14:78217600-78225200	Weak transcription	Spleen	Spleen
48	chr14:78217600-78225400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr14:78217800-78222000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:78217800-78225200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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