Variant report

Variant	nsv962532
Chromosome Location	chr2:180637994-180641454
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	chr2:180636066..180638013-chr2:180660041..180662260,2	K562	blood:
2	chr2:180630128..180633028-chr2:180639169..180641333,2	K562	blood:

Variant related genes	Relation type
ENSG00000144331	chromatin interactions

Extended variants
information (count: 127 )
Associated
traits (count: 48 )

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	rs568070441	chr2:180638018-180638019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs533720173	chr2:180638222-180638223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139115881	chr2:180638227-180638228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs570554857	chr2:180638235-180638236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs111699404	chr2:180638238-180638239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568460918	chr2:180638271-180638272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs575262685	chr2:180638326-180638327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548358143	chr2:180638345-180638346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531086174	chr2:180638349-180638350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192578031	chr2:180638407-180638408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1385972	chr2:180638414-180638415	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs184564941	chr2:180638438-180638439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369189544	chr2:180638447-180638448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374695983	chr2:180638473-180638474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536750958	chr2:180638481-180638482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs187700974	chr2:180638524-180638525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs572112048	chr2:180638526-180638527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs357695	chr2:180638607-180638608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs541016250	chr2:180638609-180638610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564272982	chr2:180638614-180638615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140521996	chr2:180638630-180638631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs115513349	chr2:180638633-180638634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs562555178	chr2:180638706-180638707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531490235	chr2:180638710-180638711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192214167	chr2:180638722-180638723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561958448	chr2:180638760-180638761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs74621250	chr2:180638785-180638786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs184315932	chr2:180638786-180638787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs539569085	chr2:180638799-180638800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539183220	chr2:180638809-180638810	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549813899	chr2:180638810-180638811	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs570165135	chr2:180638816-180638817	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535998673	chr2:180638817-180638818	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374306286	chr2:180638836-180638837	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555680061	chr2:180638853-180638854	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs572387119	chr2:180638867-180638868	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189749523	chr2:180638939-180638940	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76300469	chr2:180638952-180638953	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs557751315	chr2:180638991-180638992	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577932330	chr2:180638997-180638998	Weak transcription Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs543559716	chr2:180639031-180639032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs140710524	chr2:180639088-180639089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200639164	chr2:180639094-180639095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs55924451	chr2:180639097-180639098	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs576202183	chr2:180639098-180639099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs71029830	chr2:180639101-180639102	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs138275304	chr2:180639119-180639120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs181126378	chr2:180639126-180639127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184368440	chr2:180639127-180639128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541307821	chr2:180639134-180639135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

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
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
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
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Mental retardation	21062444	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
Myelofibrosis	22110671	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:180634400-180638400	Weak transcription	Stomach Smooth Muscle	stomach
2	chr2:180634400-180638800	Weak transcription	Liver	Liver
3	chr2:180634600-180644000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:180635000-180643000	Weak transcription	Right Atrium	heart
5	chr2:180637200-180638000	Enhancers	Fetal Lung	lung
6	chr2:180637800-180638800	Weak transcription	Fetal Heart	heart
7	chr2:180638800-180639000	Active TSS	Liver	Liver
8	chr2:180638800-180639000	Enhancers	Fetal Heart	heart

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