Variant report

Variant	esv2590335
Chromosome Location	chr1:246558272-246559654
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	chr1:246553361..246555954-chr1:246559201..246561583,2	K562	blood:
2	chr1:246548799..246550495-chr1:246559308..246561111,2	K562	blood:

Extended variants
information (count: 75 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs531041476	chr1:246558354-246558355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539543632	chr1:246558361-246558362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556197228	chr1:246558365-246558366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs371494851	chr1:246558373-246558374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs535265999	chr1:246558397-246558398	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs369601259	chr1:246558408-246558409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555650402	chr1:246558414-246558415	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs116536037	chr1:246558496-246558497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549179117	chr1:246558535-246558536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs541053299	chr1:246558554-246558555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs137885140	chr1:246558681-246558682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs12132900	chr1:246558709-246558710	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs543554083	chr1:246558779-246558780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs563192309	chr1:246558800-246558801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs576632123	chr1:246558820-246558821	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75698827	chr1:246558824-246558825	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs142309322	chr1:246558860-246558861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75381539	chr1:246558869-246558870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189835319	chr1:246558872-246558873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs181596269	chr1:246558876-246558877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570504930	chr1:246558889-246558890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs146903594	chr1:246558890-246558891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533107528	chr1:246558912-246558913	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374789398	chr1:246558916-246558917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs79204795	chr1:246558917-246558918	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs61839767	chr1:246558918-246558919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs61839768	chr1:246558920-246558921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs61839769	chr1:246558921-246558922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74163441	chr1:246558922-246558923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs61463430	chr1:246558934-246558935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183889411	chr1:246558937-246558938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs57777631	chr1:246558939-246558940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61839773	chr1:246558946-246558947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs61839774	chr1:246558962-246558963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs113745171	chr1:246558967-246558968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs566025832	chr1:246558968-246558969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74163442	chr1:246558971-246558972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs76848947	chr1:246558974-246558975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs61839775	chr1:246558990-246558991	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75625181	chr1:246559001-246559002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201497515	chr1:246559025-246559026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200119171	chr1:246559026-246559027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs373246474	chr1:246559027-246559028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs398069704	chr1:246559028-246559029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs111763010	chr1:246559044-246559045	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376630017	chr1:246559049-246559050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370721358	chr1:246559056-246559057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs374367047	chr1:246559072-246559073	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs77349142	chr1:246559083-246559084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs151036099	chr1:246559084-246559085	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Medulloblastoma	21979893	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21044232	CNVD
Cervical cancer	21063398	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	20632083	CNVD
Endometrial cancer	22040021	CNVD
Ewing''s sarcoma	21437220	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	21264507	CNVD
Liposarcoma	21253554	CNVD
Multiple myeloma	21628407	CNVD
Cancer	16751803	CNVD
Prostate cancer	16705090	CNVD
Neuroblastoma	19435921	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16461572	CNVD
Intracranial tumor	16823260	CNVD
Medulloblastoma	18056178	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Colorectal cancer	16272173	CNVD
Neuroblastoma	21899760	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	20729466	CNVD
Testicular germ cell tumor	18059402	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Hepatocellular carcinoma	18803288	CNVD
Urothelial tumor	18831757	CNVD
Lung cancer	18438408	CNVD
Medulloblastoma	16783165	CNVD
Basal cell lymphoma	17170743	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	21549014	CNVD
Mental retardation	21549014	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Cancer	17060936	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16616336	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	22291905	CNVD
Myelofibrosis	22110671	CNVD
Disease	21936942	CNVD
laryngomalacia	21936942	CNVD
GLUT3 deficiency syndrome	20509907	CNVD
Developmental delay	21373258	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Developmental delay	19490664	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Cutaneous malignant melanoma	18794153	CNVD
Astrocytoma	17934521	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Breast cancer	20409316	CNVD
Fibroblasts	17951408	CNVD
Lung cancer	17951408	CNVD
Schizophrenia	20967226	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	19805367	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246520600-246563800	Weak transcription	Osteobl	bone
2	chr1:246545800-246561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:246546600-246561400	Weak transcription	Ovary	ovary
4	chr1:246547200-246562000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:246554600-246558600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:246554600-246594800	Weak transcription	Right Ventricle	heart
7	chr1:246556000-246560200	Weak transcription	Aorta	Aorta
8	chr1:246556400-246559800	Weak transcription	Primary T cells from cord blood	blood
9	chr1:246557200-246590800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:246558800-246559000	Enhancers	Psoas Muscle	Psoas
11	chr1:246558800-246559200	Enhancers	Lung	lung
12	chr1:246559000-246559800	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr1:246559200-246560400	Weak transcription	Psoas Muscle	Psoas
14	chr1:246559200-246568800	Weak transcription	Lung	lung

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