Variant report

Variant	esv3436814
Chromosome Location	chr2:188215507-188216555
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183951053	chr2:188215512-188215513	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544984243	chr2:188215520-188215521	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs377477270	chr2:188215543-188215544	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs188557149	chr2:188215583-188215584	Strong transcription Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192864402	chr2:188215622-188215623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542270109	chr2:188215624-188215625	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144116795	chr2:188215625-188215626	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145770689	chr2:188215730-188215731	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201682718	chr2:188215731-188215732	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200074562	chr2:188215732-188215733	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs370030376	chr2:188215854-188215855	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs575692384	chr2:188215856-188215857	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373628472	chr2:188215927-188215928	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201262002	chr2:188215946-188215947	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543194232	chr2:188216012-188216013	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs112633463	chr2:188216024-188216025	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370472692	chr2:188216025-188216026	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs59030457	chr2:188216027-188216028	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs55785596	chr2:188216078-188216079	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184677369	chr2:188216090-188216091	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572874285	chr2:188216112-188216113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550451422	chr2:188216160-188216161	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34760895	chr2:188216173-188216174	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568913804	chr2:188216187-188216188	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376038624	chr2:188216208-188216209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13403333	chr2:188216209-188216210	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs551363530	chr2:188216233-188216234	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567194061	chr2:188216235-188216236	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556073046	chr2:188216256-188216257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs555937936	chr2:188216261-188216262	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs574193823	chr2:188216263-188216264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538411191	chr2:188216309-188216310	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556415535	chr2:188216312-188216313	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577681697	chr2:188216325-188216326	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187132101	chr2:188216366-188216367	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560066549	chr2:188216374-188216375	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572807868	chr2:188216392-188216393	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565111254	chr2:188216429-188216430	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs540196609	chr2:188216486-188216487	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs866506	chr2:188216509-188216510	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs562011375	chr2:188216554-188216555	Strong transcription 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
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
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
Urothelial carcinoma	21177765	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:188203200-188218200	Weak transcription	Aorta	Aorta
2	chr2:188203800-188222400	Weak transcription	Fetal Muscle Leg	muscle
3	chr2:188204000-188253600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:188208800-188250400	Weak transcription	Primary T cells from cord blood	blood
5	chr2:188209000-188229600	Weak transcription	Fetal Thymus	thymus
6	chr2:188209200-188222600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr2:188209600-188221400	Weak transcription	Fetal Kidney	kidney
8	chr2:188209800-188233400	Weak transcription	Right Ventricle	heart
9	chr2:188210600-188223200	Weak transcription	Left Ventricle	heart
10	chr2:188210800-188248000	Weak transcription	HSMMtube	muscle
11	chr2:188212200-188222600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr2:188213800-188215600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:188214000-188217000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:188214400-188216200	Weak transcription	Adipose Nuclei	Adipose
15	chr2:188214600-188250800	Weak transcription	Fetal Lung	lung
16	chr2:188214600-188257800	Weak transcription	Ovary	ovary
17	chr2:188214800-188215600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:188214800-188217800	Strong transcription	HUVEC	blood vessel
19	chr2:188215000-188218800	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:188215000-188218800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:188215000-188224600	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr2:188215400-188217000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr2:188215400-188217000	Strong transcription	Primary hematopoietic stem cells	blood
24	chr2:188215600-188216600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:188215600-188222600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:188215600-188222600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:188215600-188225200	Weak transcription	Esophagus	oesophagus
28	chr2:188216200-188217000	Strong transcription	Adipose Nuclei	Adipose
29	chr2:188216200-188229000	Weak transcription	Fetal Intestine Large	intestine

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