Variant report

Variant	esv3417578
Chromosome Location	chr2:148710292-148710703
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12104822	chr2:148710361-148710362	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs150649254	chr2:148710393-148710394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535856398	chr2:148710403-148710404	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs17225534	chr2:148710460-148710461	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202053985	chr2:148710475-148710476	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530969902	chr2:148710477-148710478	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs17225527	chr2:148710510-148710511	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs557521038	chr2:148710549-148710550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs545869980	chr2:148710550-148710551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375744279	chr2:148710556-148710557	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552675963	chr2:148710595-148710596	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369430656	chr2:148710620-148710621	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571296496	chr2:148710621-148710622	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs576389318	chr2:148710637-148710638	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	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
epilepsy	18472482	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
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	19904302	CNVD
Intellectual disability	19904302	CNVD
Microcephaly	19904302	CNVD
severe speech impairment	19904302	CNVD
Mental retardation	20152051	CNVD
2q23.1 microdeletion syndrome	18812405	CNVD
Mental retardation	19809484	CNVD
Autism	21981781	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Mental retardation	17847001	CNVD
Hodgkin''s lymphoma	18179710	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:148637200-148752600	Weak transcription	Small Intestine	intestine
2	chr2:148647200-148719600	Weak transcription	Pancreas	Pancrea
3	chr2:148650200-148719600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:148653200-148719600	Weak transcription	Esophagus	oesophagus
5	chr2:148658800-148741600	Weak transcription	Aorta	Aorta
6	chr2:148659600-148719800	Weak transcription	Gastric	stomach
7	chr2:148661600-148718200	Weak transcription	Fetal Intestine Small	intestine
8	chr2:148664600-148721200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr2:148671800-148719600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:148676200-148722400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:148678000-148718200	Weak transcription	Right Ventricle	heart
12	chr2:148679000-148718800	Weak transcription	Fetal Stomach	stomach
13	chr2:148679600-148737200	Weak transcription	Hela-S3	cervix
14	chr2:148681000-148729600	Weak transcription	NHDF-Ad	bronchial
15	chr2:148683000-148725200	Weak transcription	Fetal Heart	heart
16	chr2:148688200-148719800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:148688200-148728600	Weak transcription	NH-A	brain
18	chr2:148688800-148719600	Weak transcription	Thymus	Thymus
19	chr2:148691000-148734600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr2:148692000-148720200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:148692400-148713400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:148692800-148719400	Weak transcription	HSMMtube	muscle
23	chr2:148693000-148712600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr2:148693400-148715600	Weak transcription	NHLF	lung
25	chr2:148693400-148722000	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr2:148693800-148724200	Weak transcription	Brain Hippocampus Middle	brain
27	chr2:148694000-148719600	Weak transcription	Fetal Brain Female	brain
28	chr2:148694000-148721000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr2:148694000-148725400	Weak transcription	Brain Anterior Caudate	brain
30	chr2:148694000-148731400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:148694200-148777400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:148694400-148720600	Weak transcription	Ovary	ovary
33	chr2:148694400-148725400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr2:148694400-148738400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:148694400-148741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:148694400-148741200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr2:148694600-148720400	Weak transcription	Lung	lung
38	chr2:148694600-148731600	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr2:148695000-148746800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr2:148696600-148721400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr2:148697400-148711800	Weak transcription	A549	lung
42	chr2:148697400-148713000	Weak transcription	Brain Substantia Nigra	brain
43	chr2:148698000-148734000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:148701000-148728200	Weak transcription	Osteobl	bone
45	chr2:148701000-148730200	Weak transcription	Placenta	Placenta
46	chr2:148703200-148718400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:148706800-148712200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:148707000-148710400	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr2:148707000-148719600	Weak transcription	Spleen	Spleen
50	chr2:148707200-148719400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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