Variant report

Variant	nsv945410
Chromosome Location	chr1:242528910-242538445
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	chr1:242532755..242535089-chr1:242538620..242540939,2	MCF-7	breast:
2	chr1:242536607..242538996-chr1:242545702..242547462,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000213690	chromatin interactions

Extended variants
information (count: 424 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:424 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12038564	chr1:242528916-242528917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192077252	chr1:242528932-242528933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs571669929	chr1:242528953-242528954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs537400525	chr1:242529008-242529009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs113183630	chr1:242529010-242529011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557724468	chr1:242529012-242529013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567944377	chr1:242529042-242529043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536472787	chr1:242529071-242529072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375234724	chr1:242529074-242529075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573321254	chr1:242529097-242529098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183446921	chr1:242529152-242529153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557385236	chr1:242529153-242529154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs577229605	chr1:242529170-242529171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188897912	chr1:242529217-242529218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563482976	chr1:242529225-242529226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529166597	chr1:242529244-242529245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs542494768	chr1:242529262-242529263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs371917812	chr1:242529292-242529293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148989767	chr1:242529295-242529296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs528224764	chr1:242529308-242529309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376150849	chr1:242529310-242529311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551911176	chr1:242529391-242529392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145772549	chr1:242529468-242529469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1418428	chr1:242529469-242529470	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs138391605	chr1:242529501-242529502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79973639	chr1:242529506-242529507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193113729	chr1:242529510-242529511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552836576	chr1:242529566-242529567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs115542833	chr1:242529588-242529589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567058114	chr1:242529672-242529673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538808281	chr1:242529689-242529690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182161060	chr1:242529709-242529710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs527573810	chr1:242529758-242529759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577317984	chr1:242529769-242529770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376566071	chr1:242529772-242529773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs536677372	chr1:242529809-242529810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs556903697	chr1:242529814-242529815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs552483383	chr1:242529832-242529833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs1418427	chr1:242529880-242529881	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs542907990	chr1:242529890-242529891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs559342925	chr1:242529896-242529897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs186903800	chr1:242529923-242529924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565129252	chr1:242529938-242529939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs143074683	chr1:242529966-242529967	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372407824	chr1:242529994-242529995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532487464	chr1:242529995-242529996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545218662	chr1:242530000-242530001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs565406041	chr1:242530006-242530007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs531009675	chr1:242530021-242530022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116348902	chr1:242530042-242530043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Cancer	20164919	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
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Breast cancer	21509527	CNVD
Urothelial carcinoma	21177765	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
T-cell prolymphocytic leukemia	19278963	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
Chronic lymphocytic leukemia	21546498	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
Hepatocellular carcinoma	16750200	CNVD
Arrhythmogenic right ventricular cardiomyopathy	17576883	CNVD
Multiple myeloma	16616336	CNVD
Developmental delay	21147756	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
Pancreatic cancer	17952125	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242485600-242555400	Weak transcription	Aorta	Aorta
2	chr1:242522600-242555000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:242533400-242533800	Enhancers	Brain Cingulate Gyrus	brain
4	chr1:242533400-242533800	Enhancers	Brain Hippocampus Middle	brain
5	chr1:242533400-242534000	Enhancers	Brain Substantia Nigra	brain
6	chr1:242537400-242538400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
7	chr1:242537600-242538600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:242538000-242555400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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