Variant report

Variant	esv3459902
Chromosome Location	chr2:183974890-183975401
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	chr2:183973630..183975717-chr2:183987994..183990316,2	K562	blood:

Variant related genes	Relation type
ENSG00000163002	chromatin interactions

Extended variants
information (count: 38 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573720408	chr2:183974903-183974904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542975033	chr2:183974905-183974906	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs559474567	chr2:183974949-183974950	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528616816	chr2:183974962-183974963	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs568217685	chr2:183974978-183974979	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs565119226	chr2:183975021-183975022	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs368244975	chr2:183975024-183975025	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs530675429	chr2:183975033-183975034	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560980297	chr2:183975053-183975054	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs530014117	chr2:183975060-183975061	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs71407809	chr2:183975061-183975062	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs368444607	chr2:183975069-183975070	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs567529488	chr2:183975080-183975081	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs373942181	chr2:183975081-183975082	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs189242211	chr2:183975085-183975086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs190689874	chr2:183975086-183975087	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs566341661	chr2:183975099-183975100	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs13414689	chr2:183975116-183975117	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs71407811	chr2:183975138-183975139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556949219	chr2:183975140-183975141	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs558189111	chr2:183975152-183975153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs2176230	chr2:183975167-183975168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs2176229	chr2:183975173-183975174	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76217426	chr2:183975195-183975196	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78101552	chr2:183975202-183975203	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs76637934	chr2:183975203-183975204	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs76391157	chr2:183975211-183975212	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79757065	chr2:183975219-183975220	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs571752576	chr2:183975225-183975226	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs369970605	chr2:183975226-183975227	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs201454067	chr2:183975235-183975236	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553380474	chr2:183975240-183975241	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs2705717	chr2:183975245-183975246	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545485228	chr2:183975254-183975255	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs374847479	chr2:183975256-183975257	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565348903	chr2:183975346-183975347	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs199714367	chr2:183975355-183975356	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs528139214	chr2:183975381-183975382	Weak transcription	Chromatin interactive region	1 gene(s)	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:1 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183954600-183988400	Weak transcription	Aorta	Aorta

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