Variant report

Variant	esv1945900
Chromosome Location	chr5:100176562-100176563
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 85 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11241728	chr5:100176562-100176563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100147600-100218000	Weak transcription	Thymus	Thymus
2	chr5:100147800-100179000	Weak transcription	Fetal Thymus	thymus
3	chr5:100165000-100176800	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr5:100168800-100176600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:100170600-100179000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:100173200-100177000	Enhancers	HUVEC	blood vessel
7	chr5:100173600-100176600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr5:100173600-100176600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:100173600-100176800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr5:100173800-100177000	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:100174000-100176600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr5:100174000-100190600	Weak transcription	Fetal Lung	lung
13	chr5:100174200-100176600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:100174200-100177000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr5:100174200-100179200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:100174400-100177000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:100174600-100177600	Weak transcription	Dnd41	blood
18	chr5:100174800-100177200	Enhancers	Primary T cells from cord blood	blood
19	chr5:100175000-100177800	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr5:100175200-100176800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr5:100175200-100177800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:100175400-100177000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:100175400-100177800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr5:100175400-100178200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:100175600-100176600	Weak transcription	Placenta	Placenta
26	chr5:100175800-100177400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr5:100175800-100177800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:100175800-100177800	Enhancers	NHEK	skin
29	chr5:100175800-100178000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:100175800-100178400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr5:100176000-100176600	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr5:100176000-100176600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:100176000-100176600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:100176000-100177400	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr5:100176000-100177600	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr5:100176000-100177600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr5:100176000-100177600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:100176000-100177600	Flanking Active TSS	A549	lung
39	chr5:100176000-100177800	Enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr5:100176000-100177800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr5:100176000-100177800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:100176000-100177800	Enhancers	Primary B cells from cord blood	blood
43	chr5:100176000-100177800	Enhancers	HMEC	breast
44	chr5:100176000-100178000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr5:100176000-100178800	Flanking Active TSS	GM12878-XiMat	blood
46	chr5:100176200-100176600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:100176200-100176600	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr5:100176200-100176800	Enhancers	Adipose Nuclei	Adipose
49	chr5:100176200-100177600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr5:100176200-100177800	Enhancers	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links