Variant report

Variant	nsv583950
Chromosome Location	chr2:184087428-184090947
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	chr2:184081982..184083602-chr2:184085454..184088398,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17707395	chr2:184087428-184087429	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs541251760	chr2:184087598-184087599	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554212587	chr2:184087627-184087628	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs559618490	chr2:184087632-184087633	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs181394156	chr2:184087639-184087640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs6717880	chr2:184087648-184087649	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs369114383	chr2:184087658-184087659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs528773219	chr2:184087672-184087673	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111242986	chr2:184087685-184087686	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201376988	chr2:184087700-184087701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs545118769	chr2:184087714-184087715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs565259131	chr2:184087723-184087724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs185879446	chr2:184087732-184087733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551109500	chr2:184087747-184087748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574669190	chr2:184087750-184087751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371684686	chr2:184087797-184087798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115231441	chr2:184087870-184087871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529914752	chr2:184087885-184087886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs567986073	chr2:184087910-184087911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs199602313	chr2:184088029-184088030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs113061487	chr2:184088031-184088032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113083714	chr2:184088032-184088033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374312923	chr2:184088046-184088047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183943222	chr2:184088088-184088089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs17707407	chr2:184088114-184088115	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs142066117	chr2:184088185-184088186	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs554853324	chr2:184088187-184088188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs537422420	chr2:184088206-184088207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554247409	chr2:184088218-184088219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78048182	chr2:184088239-184088240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs151133385	chr2:184088241-184088242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115924180	chr2:184088256-184088257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs573485443	chr2:184088269-184088270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs540134014	chr2:184088278-184088279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78198718	chr2:184088329-184088330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140298952	chr2:184088331-184088332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs575728303	chr2:184088341-184088342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs544567284	chr2:184088363-184088364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs561375084	chr2:184088399-184088400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186012539	chr2:184088428-184088429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs190884985	chr2:184088436-184088437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529923234	chr2:184088440-184088441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560281674	chr2:184088455-184088456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs75872433	chr2:184088469-184088470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370331934	chr2:184088535-184088536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs576919145	chr2:184088536-184088537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200144725	chr2:184088550-184088551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs552469229	chr2:184088594-184088595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs35552274	chr2:184088610-184088611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375242360	chr2:184088639-184088640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:49)

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

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
2	chr2:184072600-184094000	Weak transcription	HSMM	muscle
3	chr2:184082400-184091400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:184085200-184089600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:184085200-184097000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:184086800-184087600	Enhancers	HSMMtube	muscle
7	chr2:184087200-184087800	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr2:184087400-184087800	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:184087400-184087800	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr2:184087400-184089800	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr2:184087600-184094000	Weak transcription	HSMMtube	muscle
12	chr2:184089400-184090200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:184089400-184092400	Enhancers	Fetal Brain Male	brain
14	chr2:184089400-184093000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:184089600-184090000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr2:184089600-184090000	Enhancers	Fetal Lung	lung
17	chr2:184089600-184090200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:184089600-184090200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr2:184089600-184090200	Enhancers	Fetal Brain Female	brain
20	chr2:184089600-184090200	Enhancers	Osteobl	bone
21	chr2:184089600-184090400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:184089600-184090400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:184089600-184093000	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr2:184089800-184090000	Enhancers	Fetal Muscle Leg	muscle
25	chr2:184089800-184090200	Enhancers	Brain Angular Gyrus	brain
26	chr2:184089800-184090200	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr2:184089800-184090200	Enhancers	Brain Substantia Nigra	brain
28	chr2:184089800-184090200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr2:184090000-184090200	Enhancers	Brain Hippocampus Middle	brain
30	chr2:184090200-184091600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:184090200-184091600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr2:184090200-184094000	Weak transcription	Osteobl	bone
33	chr2:184090200-184095800	Weak transcription	Brain Hippocampus Middle	brain
34	chr2:184090400-184091600	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:184090400-184094000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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