Variant report

Variant	esv2461880
Chromosome Location	chr2:153318414-153318414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 52 )

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	rs200722116	chr2:153318414-153318415	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
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
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153301800-153321000	Weak transcription	Right Atrium	heart
2	chr2:153302400-153321600	Weak transcription	Left Ventricle	heart
3	chr2:153303400-153322600	Weak transcription	NHLF	lung
4	chr2:153304400-153321800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:153305600-153321800	Weak transcription	Fetal Intestine Small	intestine
6	chr2:153306200-153319800	Weak transcription	Psoas Muscle	Psoas
7	chr2:153306200-153320200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:153309400-153321600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:153309400-153323600	Enhancers	Brain Angular Gyrus	brain
10	chr2:153311600-153318600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:153311800-153321600	Weak transcription	Lung	lung
12	chr2:153312000-153318800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:153312000-153320400	Weak transcription	Fetal Brain Male	brain
14	chr2:153312000-153321400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:153313000-153320800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:153313000-153321000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr2:153313000-153321600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:153313000-153322000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:153313200-153321200	Weak transcription	A549	lung
20	chr2:153313200-153321600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:153313400-153321200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:153313400-153321400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:153313800-153319000	Enhancers	Brain Cingulate Gyrus	brain
24	chr2:153313800-153321000	Weak transcription	NHEK	skin
25	chr2:153314800-153321000	Enhancers	Brain Anterior Caudate	brain
26	chr2:153315200-153321200	Weak transcription	Placenta	Placenta
27	chr2:153315600-153319000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:153316000-153319000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:153316200-153319000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:153316400-153318600	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr2:153317200-153318600	Enhancers	Brain Hippocampus Middle	brain
32	chr2:153317200-153318600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:153317400-153318600	Weak transcription	Ovary	ovary
34	chr2:153317400-153321400	Weak transcription	Aorta	Aorta
35	chr2:153317400-153328000	Enhancers	Brain Substantia Nigra	brain
36	chr2:153318000-153321000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr2:153318400-153319200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:153318400-153319200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:153318400-153319400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:153318400-153319600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:153318400-153320600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:153318400-153327200	Enhancers	HepG2	liver

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