Variant report

Variant	esv2136484
Chromosome Location	chr5:178456073-178456074
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178449642..178452190-chr5:178454798..178457420,2	MCF-7	breast:
2	chr5:178451565..178453293-chr5:178455866..178457677,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234284	chromatin interactions

Extended variants
information (count: 2 )
Associated
traits (count: 99 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34214320	chr5:178456073-178456074	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs397884189	chr5:178456074-178456075	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178451200-178461800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr5:178451400-178458000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:178451400-178461800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr5:178451600-178460600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
5	chr5:178451600-178461400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:178451600-178461800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
7	chr5:178451800-178457800	Weak transcription	HUVEC	blood vessel
8	chr5:178451800-178460800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr5:178451800-178461800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr5:178451800-178461800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:178451800-178464000	ZNF genes & repeats	Liver	Liver
12	chr5:178452000-178456200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
13	chr5:178453000-178456400	ZNF genes & repeats	Fetal Muscle Leg	muscle
14	chr5:178453000-178461000	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
15	chr5:178453000-178461000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
16	chr5:178453000-178461800	ZNF genes & repeats	Brain Anterior Caudate	brain
17	chr5:178453000-178464000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
18	chr5:178453200-178460800	ZNF genes & repeats	Primary B cells from peripheral blood	blood
19	chr5:178453200-178460800	ZNF genes & repeats	Primary T cells from cord blood	blood
20	chr5:178453200-178461000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
21	chr5:178453200-178461200	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
22	chr5:178453200-178461200	ZNF genes & repeats	Fetal Kidney	kidney
23	chr5:178453200-178461800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
24	chr5:178453200-178461800	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
25	chr5:178453200-178461800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:178453200-178461800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr5:178453200-178461800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr5:178453200-178462400	ZNF genes & repeats	Fetal Brain Female	brain
29	chr5:178453400-178456200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:178453400-178460600	ZNF genes & repeats	Primary B cells from cord blood	blood
31	chr5:178453400-178460800	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
32	chr5:178453400-178461600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
33	chr5:178453600-178456200	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:178453600-178456200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr5:178453600-178456200	ZNF genes & repeats	Left Ventricle	heart
36	chr5:178453600-178461200	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
37	chr5:178453600-178461600	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr5:178453600-178461600	ZNF genes & repeats	Brain Substantia Nigra	brain
39	chr5:178453600-178461800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr5:178453600-178462000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
41	chr5:178453600-178464200	ZNF genes & repeats	Adipose Nuclei	Adipose
42	chr5:178453600-178465800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
43	chr5:178453800-178456200	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:178453800-178456400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
45	chr5:178453800-178457000	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr5:178453800-178460400	ZNF genes & repeats	Ovary	ovary
47	chr5:178453800-178460400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
48	chr5:178453800-178461600	ZNF genes & repeats	Brain Angular Gyrus	brain
49	chr5:178453800-178461800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr5:178453800-178461800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links