Variant report

Variant	esv3381842
Chromosome Location	chr2:208986732-208988780
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 59 )
Associated
traits (count: 53 )

Variant overlapped rSNPs/rCNVs (count:59 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551619134	chr2:208986756-208986757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182677429	chr2:208986757-208986758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537121827	chr2:208986823-208986824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202160884	chr2:208986838-208986839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1470826	chr2:208986839-208986840	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs6746206	chr2:208986935-208986936	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146592394	chr2:208986955-208986956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs201615550	chr2:208987034-208987035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571985265	chr2:208987036-208987037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541004613	chr2:208987169-208987170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557594249	chr2:208987194-208987195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs577686599	chr2:208987285-208987286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541631080	chr2:208987305-208987306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs543509124	chr2:208987310-208987311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563882109	chr2:208987353-208987354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576519975	chr2:208987361-208987362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188004444	chr2:208987399-208987400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529461353	chr2:208987407-208987408	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543387851	chr2:208987448-208987449	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34334031	chr2:208987449-208987450	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528505839	chr2:208987473-208987474	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192566336	chr2:208987526-208987527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62192853	chr2:208987572-208987573	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77998402	chr2:208987574-208987575	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78911473	chr2:208987575-208987576	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565100495	chr2:208987580-208987581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531046045	chr2:208987583-208987584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10195891	chr2:208987608-208987609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs569563545	chr2:208987652-208987653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs184418929	chr2:208987669-208987670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188947916	chr2:208987690-208987691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376151703	chr2:208987732-208987733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192413588	chr2:208987830-208987831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184821693	chr2:208987858-208987859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200190376	chr2:208987897-208987898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188904909	chr2:208987933-208987934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181561834	chr2:208988033-208988034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142451775	chr2:208988067-208988068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200291051	chr2:208988077-208988078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184714125	chr2:208988082-208988083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543222778	chr2:208988100-208988101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs199558168	chr2:208988153-208988154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs28627503	chr2:208988154-208988155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs140069691	chr2:208988235-208988236	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs76619308	chr2:208988281-208988282	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs189639557	chr2:208988292-208988293	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs565287219	chr2:208988298-208988299	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs147591436	chr2:208988301-208988302	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144498364	chr2:208988362-208988363	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs78744186	chr2:208988431-208988432	Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:53)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	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
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	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
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Cervical cancer	21062161	CNVD
Intracranial aneurysm	16715129	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	16573809	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Non-small cell lung cancer	21829676	CNVD
Autism	20808228	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:208973200-208989000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:208978000-208988400	Weak transcription	Fetal Brain Female	brain
3	chr2:208978400-208988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:208984600-208994200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:208985800-208987400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:208985800-208988400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr2:208987400-208987600	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr2:208987600-208989200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:208988200-208988400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:208988200-208988400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:208988200-208990400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr2:208988400-208988600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
13	chr2:208988400-208988600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:208988400-208988600	Enhancers	Brain Angular Gyrus	brain
15	chr2:208988400-208988800	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
16	chr2:208988400-208988800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:208988400-208988800	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr2:208988400-208989600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:208988400-208989800	Active TSS	Fetal Brain Female	brain
20	chr2:208988400-208990000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:208988600-208988800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
22	chr2:208988600-208988800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
23	chr2:208988600-208988800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:208988600-208988800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
25	chr2:208988600-208989000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:208988600-208989000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
27	chr2:208988600-208989000	Bivalent Enhancer	NH-A	brain
28	chr2:208988600-208989400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:208988600-208989400	Active TSS	Brain Angular Gyrus	brain
30	chr2:208988600-208989400	Active TSS	Ovary	ovary
31	chr2:208988600-208989600	Active TSS	Fetal Brain Male	brain
32	chr2:208988600-208989600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
33	chr2:208988600-208989800	Active TSS	Brain Anterior Caudate	brain

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