Variant report

Variant	esv3330248
Chromosome Location	chr2:152733150-152733312
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	chr2:152685053..152687897-chr2:152732170..152734670,2	K562	blood:
2	chr2:152732416..152734618-chr2:152737522..152739682,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186843714	chr2:152733157-152733158	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368444405	chr2:152733169-152733170	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs371735109	chr2:152733170-152733171	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs190200593	chr2:152733171-152733172	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376372519	chr2:152733174-152733175	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369488268	chr2:152733175-152733176	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs374727534	chr2:152733178-152733179	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369069340	chr2:152733179-152733180	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570193341	chr2:152733196-152733197	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144665399	chr2:152733205-152733206	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs541867984	chr2:152733218-152733219	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547372787	chr2:152733233-152733234	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs543944359	chr2:152733240-152733241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369528860	chr2:152733248-152733249	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs72042799	chr2:152733249-152733250	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541533215	chr2:152733260-152733261	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs376504205	chr2:152733262-152733263	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs199985632	chr2:152733263-152733264	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371681855	chr2:152733276-152733277	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562144947	chr2:152733297-152733298	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62175670	chr2:152733302-152733303	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152699800-152742000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:152713000-152747800	Weak transcription	Brain Germinal Matrix	brain
3	chr2:152722000-152736200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:152722400-152735000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr2:152723000-152748200	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:152726000-152739200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:152726000-152739400	Weak transcription	Fetal Brain Male	brain
8	chr2:152726400-152739400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr2:152726600-152734800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:152726800-152735200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:152726800-152735200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:152729400-152733800	Weak transcription	Aorta	Aorta
13	chr2:152730800-152736200	Weak transcription	Fetal Brain Female	brain
14	chr2:152730800-152748000	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:152731200-152743400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr2:152731600-152735800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:152732000-152735200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:152732000-152742600	Weak transcription	Esophagus	oesophagus
19	chr2:152732600-152733200	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr2:152732600-152734800	Strong transcription	HepG2	liver
21	chr2:152733000-152735000	Weak transcription	Brain Substantia Nigra	brain
22	chr2:152733000-152735200	Weak transcription	Right Atrium	heart
23	chr2:152733000-152736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:152733000-152736200	Weak transcription	Brain Angular Gyrus	brain
25	chr2:152733200-152734200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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