Variant report

Variant	nsv1004989
Chromosome Location	chr1:242561889-242584104
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:242576728..242577460-chr2:3592302..3593192,2	MCF-7	breast:
2	chr1:242570206..242572074-chr1:242586277..242589124,2	K562	blood:
3	chr1:242579229..242580899-chr1:242592362..242595019,2	K562	blood:

Extended variants
information (count: 985 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:985 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2810041	chr1:242561889-242561890	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572468153	chr1:242561895-242561896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541784811	chr1:242561900-242561901	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2580239	chr1:242561938-242561939	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs377016985	chr1:242561960-242561961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148662893	chr1:242561980-242561981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374606120	chr1:242561981-242561982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377657226	chr1:242561982-242561983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11280903	chr1:242561986-242561987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150260022	chr1:242561993-242561994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184073114	chr1:242562026-242562027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531342208	chr1:242562060-242562061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs547862797	chr1:242562078-242562079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs115334230	chr1:242562097-242562098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186790421	chr1:242562102-242562103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2580238	chr1:242562105-242562106	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs138415606	chr1:242562159-242562160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs548649227	chr1:242562249-242562250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141117670	chr1:242562276-242562277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191234178	chr1:242562304-242562305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs556339536	chr1:242562338-242562339	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569844997	chr1:242562369-242562370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs200006733	chr1:242562500-242562501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs374544688	chr1:242562507-242562508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs2809978	chr1:242562521-242562522	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs115995514	chr1:242562550-242562551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182326893	chr1:242562559-242562560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146967125	chr1:242562573-242562574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs557836416	chr1:242562586-242562587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73130376	chr1:242562599-242562600	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs543740236	chr1:242562615-242562616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187030924	chr1:242562631-242562632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs372049809	chr1:242562653-242562654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192743106	chr1:242562666-242562667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs137993001	chr1:242562667-242562668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185196306	chr1:242562687-242562688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2809985	chr1:242562721-242562722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs563893334	chr1:242562746-242562747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574498308	chr1:242562763-242562764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533292029	chr1:242562766-242562767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs143493182	chr1:242562782-242562783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs188512105	chr1:242562787-242562788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535655733	chr1:242562795-242562796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs193243391	chr1:242562835-242562836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141291916	chr1:242562838-242562839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs571988562	chr1:242562922-242562923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs534771982	chr1:242562926-242562927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558165547	chr1:242562938-242562939	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs10712764	chr1:242562947-242562948	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs577933980	chr1:242562974-242562975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Breast cancer	22522925	CNVD

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242547200-242575200	Weak transcription	HMEC	breast
2	chr1:242549800-242580800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:242556000-242565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:242556000-242565000	Weak transcription	NHEK	skin
5	chr1:242556000-242575200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:242556000-242586600	Weak transcription	Aorta	Aorta
7	chr1:242556200-242569200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:242556200-242570600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr1:242561600-242562200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:242561800-242566400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:242562000-242562600	Enhancers	Brain Angular Gyrus	brain
12	chr1:242562800-242563200	Enhancers	Fetal Brain Male	brain
13	chr1:242565000-242565400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:242565000-242565400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:242565000-242565600	Enhancers	NHEK	skin
16	chr1:242565400-242572800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:242565600-242567000	Weak transcription	NHEK	skin
18	chr1:242566400-242566800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:242567800-242569200	Weak transcription	NHEK	skin
20	chr1:242569200-242569600	Enhancers	NHEK	skin
21	chr1:242569200-242569800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:242569800-242575000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:242571800-242572000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:242572000-242574200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:242572800-242573800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:242573200-242575400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:242573800-242575000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:242574800-242584800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:242575000-242575800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:242575000-242575800	Enhancers	NHEK	skin
31	chr1:242575000-242576200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:242575200-242575600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:242575200-242575800	Enhancers	HMEC	breast
34	chr1:242575400-242575600	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr1:242575800-242577000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:242575800-242589400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:242576200-242587400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:242577000-242577800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:242577000-242578200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr1:242577000-242578600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr1:242577000-242578600	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:242577000-242578600	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr1:242577200-242578600	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr1:242577400-242578000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:242577400-242578200	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr1:242577400-242578600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr1:242577600-242578000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:242577800-242578600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:242577800-242580800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr1:242579200-242580600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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