Variant report

Variant	esv1708594
Chromosome Location	chr5:49736387-49736395
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	chr5:49731051..49732867-chr5:49733750..49736731,2	MCF-7	breast:

Extended variants
information (count: 1 )
Associated
traits (count: 84 )

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	rs70972912	chr5:49736388-49736389	Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	20877625	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49720400-49736400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:49720400-49736400	Weak transcription	Spleen	Spleen
3	chr5:49727800-49736400	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:49735000-49736400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr5:49735000-49738000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:49735200-49736400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:49735200-49736600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr5:49735200-49737400	Active TSS	HMEC	breast
9	chr5:49735200-49738200	Active TSS	Duodenum Mucosa	Duodenum
10	chr5:49735400-49737600	Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr5:49735400-49737800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr5:49735600-49736800	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr5:49735600-49737200	Active TSS	Primary T cells fromperipheralblood	blood
14	chr5:49735600-49737800	Active TSS	Thymus	Thymus
15	chr5:49735800-49736600	Active TSS	Adipose Nuclei	Adipose
16	chr5:49735800-49736800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:49735800-49737000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
18	chr5:49735800-49737000	Active TSS	GM12878-XiMat	blood
19	chr5:49735800-49737400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr5:49735800-49737400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr5:49735800-49737600	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr5:49735800-49737600	Active TSS	Primary T helper naive cells from peripheral blood	blood
23	chr5:49735800-49737600	Active TSS	Rectal Smooth Muscle	rectum
24	chr5:49735800-49737800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr5:49735800-49737800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr5:49735800-49738000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr5:49735800-49738000	Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:49736000-49736600	Active TSS	Brain Hippocampus Middle	brain
29	chr5:49736000-49736600	Active TSS	Right Atrium	heart
30	chr5:49736000-49736800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:49736000-49736800	Bivalent Enhancer	Fetal Brain Male	brain
32	chr5:49736000-49736800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr5:49736000-49737200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr5:49736000-49737200	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
35	chr5:49736000-49737200	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr5:49736000-49737400	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:49736000-49737400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr5:49736000-49737400	Active TSS	Small Intestine	intestine
39	chr5:49736000-49737400	Active TSS	Stomach Mucosa	stomach
40	chr5:49736000-49737400	Active TSS	HSMM	muscle
41	chr5:49736000-49737600	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr5:49736000-49737600	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr5:49736000-49737600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr5:49736000-49737600	Active TSS	Colonic Mucosa	Colon
45	chr5:49736000-49737600	Active TSS	Esophagus	oesophagus
46	chr5:49736000-49737800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr5:49736000-49737800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr5:49736000-49737800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr5:49736000-49737800	Active TSS	Fetal Intestine Small	intestine
50	chr5:49736000-49737800	Active TSS	Pancreatic Islets	Pancreatic Islet

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