Variant report

Variant	esv2762981
Chromosome Location	chr2:183054995-183059200
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:152 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3769794	chr2:183054995-183054996	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs544796109	chr2:183055082-183055083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs76594702	chr2:183055305-183055306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140862576	chr2:183055409-183055410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574412970	chr2:183055428-183055429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144781899	chr2:183055510-183055511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552335543	chr2:183055512-183055513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182321283	chr2:183055525-183055526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs559848305	chr2:183055540-183055541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532444260	chr2:183055578-183055579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs552092244	chr2:183055636-183055637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562439980	chr2:183055685-183055686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370142226	chr2:183055686-183055687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200473837	chr2:183055694-183055695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567109461	chr2:183055695-183055696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs373844395	chr2:183055721-183055722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73041890	chr2:183055729-183055730	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs186035371	chr2:183055751-183055752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529100741	chr2:183055861-183055862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556730083	chr2:183055866-183055867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs567764108	chr2:183055918-183055919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs190808039	chr2:183056025-183056026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546979422	chr2:183056035-183056036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs375303735	chr2:183056069-183056070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549068268	chr2:183056078-183056079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183072780	chr2:183056158-183056159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs559318560	chr2:183056168-183056169	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs575991469	chr2:183056191-183056192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs538453124	chr2:183056201-183056202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs148874870	chr2:183056254-183056255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs571851489	chr2:183056299-183056300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574477490	chr2:183056313-183056314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs539166151	chr2:183056314-183056315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs142730091	chr2:183056329-183056330	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs186460826	chr2:183056330-183056331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs59695429	chr2:183056359-183056360	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs551405205	chr2:183056361-183056362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568302787	chr2:183056372-183056373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554305844	chr2:183056383-183056384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200092276	chr2:183056429-183056430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562478544	chr2:183056442-183056443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs16823678	chr2:183056519-183056520	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541645508	chr2:183056523-183056524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571047735	chr2:183056556-183056557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377657574	chr2:183056569-183056570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142596612	chr2:183056573-183056574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561688375	chr2:183056577-183056578	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148052266	chr2:183056584-183056585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112013501	chr2:183056585-183056586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201037585	chr2:183056586-183056587	Weak transcription	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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Sudden cardiac death	19188705	CNVD
Autism	19329560	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183048400-183073000	Weak transcription	Fetal Stomach	stomach
2	chr2:183048800-183060000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr2:183050800-183065000	Weak transcription	Aorta	Aorta
4	chr2:183052200-183065000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:183052400-183060200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:183054800-183055200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:183055200-183056400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:183056400-183065000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:183058800-183065200	Weak transcription	Primary hematopoietic stem cells	blood

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