Variant report

Variant	nsv441785
Chromosome Location	chr2:133473528-133476565
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:133466983..133469956-chr2:133475273..133477903,2	K562	blood:
2	chr2:133473952..133476092-chr2:133482509..133484612,2	K562	blood:
3	chr2:133474076..133476809-chr2:133480916..133483257,3	MCF-7	breast:

Extended variants
information (count: 101 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527899327	chr2:133473557-133473558	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549603608	chr2:133473587-133473588	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs561430099	chr2:133473636-133473637	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150311531	chr2:133473637-133473638	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80253984	chr2:133473706-133473707	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs147565090	chr2:133473717-133473718	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs141953116	chr2:133473731-133473732	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547198624	chr2:133473807-133473808	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565821278	chr2:133473821-133473822	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs183372892	chr2:133473826-133473827	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs114772806	chr2:133473911-133473912	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371216394	chr2:133473934-133473935	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187700415	chr2:133473969-133473970	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543144452	chr2:133474003-133474004	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111716455	chr2:133474028-133474029	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192476110	chr2:133474045-133474046	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578080337	chr2:133474093-133474094	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545454922	chr2:133474149-133474150	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376880279	chr2:133474153-133474154	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs113652621	chr2:133474213-133474214	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542892192	chr2:133474216-133474217	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561623070	chr2:133474218-133474219	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531910340	chr2:133474236-133474237	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549349059	chr2:133474245-133474246	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564513395	chr2:133474251-133474252	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs115368602	chr2:133474258-133474259	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs547428856	chr2:133474285-133474286	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560292709	chr2:133474307-133474308	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs565678179	chr2:133474308-133474309	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536447154	chr2:133474315-133474316	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527442447	chr2:133474406-133474407	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs17325076	chr2:133474412-133474413	Genic enhancers Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs115385456	chr2:133474431-133474432	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs116812835	chr2:133474445-133474446	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189738973	chr2:133474461-133474462	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs538662446	chr2:133474464-133474465	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs567548905	chr2:133474470-133474471	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147126766	chr2:133474500-133474501	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191754193	chr2:133474548-133474549	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543184604	chr2:133474553-133474554	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554776643	chr2:133474583-133474584	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs576243882	chr2:133474640-133474641	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543662736	chr2:133474641-133474642	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs34118893	chr2:133474650-133474651	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138528744	chr2:133474716-133474717	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs184249200	chr2:133474765-133474766	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540717495	chr2:133474773-133474774	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559379631	chr2:133474789-133474790	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188960397	chr2:133474793-133474794	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548284383	chr2:133474823-133474824	Genic enhancers Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Myxofibrosarcoma	16751306	CNVD
Breast cancer	16272173	CNVD
Mowat-Wilson syndrome	21572526	CNVD
Disorders of sex development	21048976	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Hepatocellular carcinoma	16750200	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	16573809	CNVD
Prostate cancer	18632612	CNVD
Developmental delay	21147756	CNVD
Mental retardation	17621639	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21509527	CNVD
Mental retardation	17124404	CNVD
Colorectal cancer	20459617	CNVD
Neuroticism	17667963	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:133448600-133477000	Weak transcription	Fetal Stomach	stomach
2	chr2:133458000-133490000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:133460000-133479400	Weak transcription	Ovary	ovary
4	chr2:133468800-133485200	Weak transcription	Esophagus	oesophagus
5	chr2:133469200-133474400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:133469600-133473600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:133470600-133473800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:133471200-133474000	Weak transcription	Brain Substantia Nigra	brain
9	chr2:133472800-133473600	Enhancers	Fetal Muscle Leg	muscle
10	chr2:133473000-133474200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:133473000-133474600	Enhancers	Brain Germinal Matrix	brain
12	chr2:133473000-133474800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:133473200-133473600	Enhancers	Left Ventricle	heart
14	chr2:133473200-133474400	Weak transcription	Brain Hippocampus Middle	brain
15	chr2:133473200-133475000	Enhancers	Brain Anterior Caudate	brain
16	chr2:133473200-133475200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:133473400-133474800	Enhancers	Fetal Brain Male	brain
18	chr2:133473400-133477000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:133473600-133474000	Enhancers	Brain Cingulate Gyrus	brain
20	chr2:133473600-133477000	Weak transcription	Lung	lung
21	chr2:133473600-133481400	Weak transcription	Left Ventricle	heart
22	chr2:133473600-133491000	Weak transcription	Fetal Muscle Leg	muscle
23	chr2:133473800-133474200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:133473800-133474200	Enhancers	NHLF	lung
25	chr2:133474000-133475000	Enhancers	Brain Substantia Nigra	brain
26	chr2:133474000-133491000	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:133474200-133477000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:133474200-133477000	Weak transcription	NHLF	lung
29	chr2:133474400-133474800	Enhancers	Brain Hippocampus Middle	brain
30	chr2:133474400-133475200	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:133474600-133490600	Weak transcription	Brain Germinal Matrix	brain
32	chr2:133474800-133485200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr2:133474800-133488600	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:133474800-133489000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:133474800-133497800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr2:133475000-133492800	Weak transcription	Brain Substantia Nigra	brain
37	chr2:133475200-133488200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr2:133475200-133491000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:133476200-133497400	Weak transcription	Fetal Brain Female	brain

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