Variant report

Variant	esv1505806
Chromosome Location	chr2:172598593-172598594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 46 )

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	rs397986658	chr2:172598594-172598595	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:46)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172545200-172611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:172546600-172602800	Weak transcription	Small Intestine	intestine
3	chr2:172559600-172605200	Weak transcription	Colonic Mucosa	Colon
4	chr2:172561400-172601800	Weak transcription	Fetal Heart	heart
5	chr2:172564200-172610000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:172569000-172618600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr2:172569800-172611400	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr2:172579800-172611200	Strong transcription	Adipose Nuclei	Adipose
9	chr2:172580200-172611200	Strong transcription	Placenta	Placenta
10	chr2:172580400-172610600	Strong transcription	Fetal Thymus	thymus
11	chr2:172580400-172611400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:172580400-172611400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:172581200-172601800	Weak transcription	Stomach Mucosa	stomach
14	chr2:172581800-172608600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:172581800-172611600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr2:172584200-172605400	Strong transcription	Fetal Muscle Leg	muscle
17	chr2:172586800-172600600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr2:172586800-172612000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:172587600-172600000	Weak transcription	Hela-S3	cervix
20	chr2:172587800-172640800	Weak transcription	Psoas Muscle	Psoas
21	chr2:172588400-172601600	Weak transcription	Dnd41	blood
22	chr2:172588400-172601800	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:172588400-172617000	Weak transcription	Spleen	Spleen
24	chr2:172588400-172617400	Weak transcription	Gastric	stomach
25	chr2:172588400-172619800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:172588600-172600600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr2:172588800-172601600	Weak transcription	Right Ventricle	heart
28	chr2:172588800-172617400	Weak transcription	Pancreas	Pancrea
29	chr2:172589000-172599800	Weak transcription	Esophagus	oesophagus
30	chr2:172589200-172599000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:172589200-172601600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:172589200-172608400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:172589600-172617200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:172589800-172599400	Weak transcription	Fetal Brain Male	brain
35	chr2:172590000-172601600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr2:172591000-172611400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr2:172591400-172600000	Weak transcription	NHLF	lung
38	chr2:172591800-172606000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr2:172593000-172599200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:172593000-172602800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr2:172593200-172645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:172593400-172599600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr2:172593400-172605800	Strong transcription	Fetal Intestine Large	intestine
44	chr2:172593800-172599600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr2:172594200-172599000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr2:172594200-172601400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:172594400-172598800	Weak transcription	Left Ventricle	heart
48	chr2:172594400-172599000	Weak transcription	Osteobl	bone
49	chr2:172594400-172599200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:172594400-172601600	Weak transcription	HSMMtube	muscle

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