Variant report

Variant	esv3450972
Chromosome Location	chr13:37559009-37559416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:37541480..37544414-chr13:37558914..37561167,2	MCF-7	breast:
2	chr13:37557592..37563683-chr13:37571842..37575220,9	MCF-7	breast:
3	chr13:37556904..37559060-chr13:37572018..37574128,2	K562	blood:
4	chr13:37558525..37560139-chr13:37564523..37566978,2	K562	blood:
5	chr13:37559041..37561976-chr13:37572718..37575249,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120697	chromatin interactions
ENSG00000120699	chromatin interactions

Extended variants
information (count: 15 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545495767	chr13:37559019-37559020	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565032410	chr13:37559086-37559087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs73539800	chr13:37559098-37559099	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs571953598	chr13:37559099-37559100	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs537800122	chr13:37559113-37559114	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs145994238	chr13:37559167-37559168	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs568333400	chr13:37559191-37559192	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs535336509	chr13:37559213-37559214	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs576462834	chr13:37559225-37559226	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs572204556	chr13:37559238-37559239	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs546202772	chr13:37559242-37559243	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs557859364	chr13:37559259-37559260	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs576111535	chr13:37559274-37559275	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs2078022	chr13:37559306-37559307	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
15	rs369833382	chr13:37559383-37559384	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	20164920	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
HIV/AIDS	22032296	CNVD
Prostate cancer	16705090	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	18698080	CNVD
Chordoma	21602918	CNVD
Bladder cancer	21949216	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Chronic lymphocytic leukemia	21518781	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Ovarian cancer	20844748	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Colorectal cancer	19359472	CNVD
Intracranial aneurysm	19064780	CNVD
Breast cancer	19287154	CNVD
Acute myeloid leukemia	18379011	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Multiple myeloma	17077331	CNVD
Ependymoma	16718352	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Squamous cell cancer	20885788	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Thyroid cancer	19087340	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	16608533	CNVD
Neuroblastoma	18923191	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	17899364	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Colorectal cancer	16774939	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17133270	CNVD
Myoepithelioma	18604193	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Prostate cancer	16573809	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Trisomy	24170809	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Alveolar rhabdomyosarcoma	16790082	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Prostate cancer	21965145	CNVD
Hirschsprung''s Disease	21712996	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Paraganglioma	21461997	CNVD
Pheochromocytoma	21461997	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Monoclonal gammopathy of undetermined significance	19135901	CNVD
Prostate cancer	19242612	CNVD
Prostate cancer	17245344	CNVD
Colorectal cancer	21586687	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Retinoblastoma	19183342	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Developmental delay	21147756	CNVD
Colorectal cancer	21645411	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Melanoma	18172304	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Urothelial carcinoma	21177765	CNVD
Chronic lymphocytic leukemia	20421269	CNVD

Chromatin state (count:147 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:37519600-37561400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:37520600-37560800	Weak transcription	Small Intestine	intestine
3	chr13:37524000-37563800	Weak transcription	Psoas Muscle	Psoas
4	chr13:37524600-37572400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr13:37525000-37560800	Weak transcription	Fetal Heart	heart
6	chr13:37526800-37559400	Weak transcription	Hela-S3	cervix
7	chr13:37531800-37570000	Strong transcription	Dnd41	blood
8	chr13:37539000-37561000	Weak transcription	Aorta	Aorta
9	chr13:37539400-37561000	Weak transcription	Right Ventricle	heart
10	chr13:37539400-37562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr13:37539600-37562400	Weak transcription	Fetal Brain Male	brain
12	chr13:37540200-37561400	Weak transcription	Esophagus	oesophagus
13	chr13:37540200-37562200	Weak transcription	K562	blood
14	chr13:37545600-37561200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:37547400-37570000	Strong transcription	Fetal Thymus	thymus
16	chr13:37547800-37559800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr13:37547800-37570200	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr13:37549000-37569400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr13:37549600-37559400	Strong transcription	Fetal Intestine Large	intestine
20	chr13:37550000-37561200	Weak transcription	A549	lung
21	chr13:37550000-37563800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr13:37550000-37565400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr13:37550400-37570200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:37550600-37570400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr13:37551600-37565000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:37552200-37570000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr13:37552400-37570000	Strong transcription	Primary T cells from cord blood	blood
28	chr13:37552600-37570200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:37553200-37569600	Strong transcription	Placenta	Placenta
30	chr13:37553200-37569800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:37553200-37570000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr13:37554200-37561600	Weak transcription	HSMMtube	muscle
33	chr13:37554200-37569800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr13:37554400-37560200	Strong transcription	HUVEC	blood vessel
35	chr13:37554400-37569400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:37554600-37569800	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr13:37555200-37570200	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr13:37555200-37571200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:37555600-37560200	Strong transcription	NH-A	brain
40	chr13:37555600-37569200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr13:37555600-37570200	Strong transcription	Liver	Liver
42	chr13:37555600-37570200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr13:37555600-37570400	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr13:37555600-37570400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr13:37555800-37559200	Strong transcription	Left Ventricle	heart
46	chr13:37555800-37567200	Weak transcription	Stomach Mucosa	stomach
47	chr13:37555800-37569400	Strong transcription	Adipose Nuclei	Adipose
48	chr13:37555800-37570000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:37555800-37570200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr13:37556000-37566600	Strong transcription	Fetal Muscle Leg	muscle

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