Variant report

Variant	nsv821841
Chromosome Location	chr2:183370796-183372061
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs537398204	chr2:183370819-183370820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs556978212	chr2:183370822-183370823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181603185	chr2:183370873-183370874	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187215334	chr2:183370875-183370876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542470320	chr2:183370876-183370877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559560083	chr2:183370909-183370910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs77488456	chr2:183370940-183370941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs565225886	chr2:183370959-183370960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs149875197	chr2:183370960-183370961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200172308	chr2:183371067-183371068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533364918	chr2:183371126-183371127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs147600338	chr2:183371158-183371159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs528019484	chr2:183371170-183371171	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529557404	chr2:183371260-183371261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs55990237	chr2:183371294-183371295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs549335096	chr2:183371312-183371313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192005030	chr2:183371341-183371342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182691522	chr2:183371347-183371348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs142038170	chr2:183371417-183371418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570963646	chr2:183371465-183371466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541712501	chr2:183371540-183371541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs536651220	chr2:183371557-183371558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371145787	chr2:183371594-183371595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs556879125	chr2:183371738-183371739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573872269	chr2:183371749-183371750	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376275275	chr2:183371839-183371840	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144447799	chr2:183371848-183371849	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs55928006	chr2:183371950-183371951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs111657489	chr2:183371960-183371961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs187526453	chr2:183372023-183372024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs189844635	chr2:183372031-183372032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs537336015	chr2:183372034-183372035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	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
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183361600-183392000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:183365600-183371400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:183367800-183373800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:183368000-183371600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:183368200-183372800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:183368400-183370800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:183368400-183371400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:183368600-183370800	Enhancers	Osteobl	bone
9	chr2:183369600-183372000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:183370000-183371200	Weak transcription	NHDF-Ad	bronchial
11	chr2:183370200-183371400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:183370200-183371400	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr2:183370200-183371400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:183370200-183371400	Weak transcription	NHLF	lung
15	chr2:183370400-183371400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:183370600-183370800	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr2:183370800-183371200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:183370800-183371200	Weak transcription	Osteobl	bone
19	chr2:183370800-183371600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:183371200-183371800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:183371200-183371800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr2:183371200-183371800	Enhancers	Osteobl	bone
23	chr2:183371200-183372000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:183371400-183371600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr2:183371400-183371600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:183371400-183371800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr2:183371400-183371800	Enhancers	Brain Hippocampus Middle	brain
28	chr2:183371400-183371800	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr2:183371400-183371800	Enhancers	NHLF	lung
30	chr2:183371600-183371800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr2:183371600-183371800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:183371600-183371800	Enhancers	NH-A	brain
33	chr2:183371600-183371800	Enhancers	NHDF-Ad	bronchial
34	chr2:183371800-183384600	Weak transcription	Brain Inferior Temporal Lobe	brain

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