Variant report

Variant	nsv524232
Chromosome Location	chr1:175403509-175411978
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:175345069..175346055-chr1:175402795..175404096,6	K562	blood:
2	chr1:175342881..175343605-chr1:175403112..175404017,3	MCF-7	breast:
3	chr1:175343089..175343675-chr1:175403109..175404076,4	K562	blood:

Extended variants
information (count: 356 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:356 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6655978	chr1:175403509-175403510	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs576093185	chr1:175403521-175403522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs545362401	chr1:175403545-175403546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2001109	chr1:175403546-175403547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558887976	chr1:175403550-175403551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572322960	chr1:175403584-175403585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs138555773	chr1:175403597-175403598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147545509	chr1:175403650-175403651	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530162630	chr1:175403655-175403656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs193219109	chr1:175403676-175403677	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs563381480	chr1:175403680-175403681	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs532366703	chr1:175403700-175403701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552104097	chr1:175403770-175403771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540294150	chr1:175403774-175403775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79291557	chr1:175403789-175403790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12043553	chr1:175403791-175403792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs139230611	chr1:175403796-175403797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79998739	chr1:175403806-175403807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376870913	chr1:175403807-175403808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184617991	chr1:175403818-175403819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs115336924	chr1:175403832-175403833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112707278	chr1:175403834-175403835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs531426709	chr1:175403883-175403884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191805573	chr1:175403908-175403909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs76346867	chr1:175403925-175403926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs572391605	chr1:175403937-175403938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116028424	chr1:175403980-175403981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374869870	chr1:175404051-175404052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554500449	chr1:175404062-175404063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16848423	chr1:175404076-175404077	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs10912978	chr1:175404089-175404090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs563442738	chr1:175404092-175404093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs576882265	chr1:175404099-175404100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs545811340	chr1:175404106-175404107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs149785752	chr1:175404110-175404111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs115586209	chr1:175404126-175404127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368462688	chr1:175404177-175404178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs66584940	chr1:175404213-175404214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs6656789	chr1:175404326-175404327	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs74130303	chr1:175404332-175404333	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs540520727	chr1:175404382-175404383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551148408	chr1:175404418-175404419	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372219772	chr1:175404420-175404421	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs150994261	chr1:175404460-175404461	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs140860879	chr1:175404464-175404465	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs552229906	chr1:175404466-175404467	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs111908863	chr1:175404495-175404496	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs534649998	chr1:175404526-175404527	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs554842827	chr1:175404548-175404549	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs189825440	chr1:175404552-175404553	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	16750200	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Cancer	21183584	CNVD
Multiple myeloma	16461302	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	CNVD
Non-small cell lung cancer	21829676	CNVD
Carcinoma ex pleomorphic adenoma	18828159	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
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
Acute lymphoblastic leukemia	21098271	CNVD
Neuroblastoma	21899760	CNVD
Bladder cancer	19088036	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	CNVD
Retinoblastoma	19183342	CNVD
Non-small cell lung cancer	21385341	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	16608533	CNVD
Ewing''s sarcoma	22429812	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Chordoma	18071362	CNVD
Hepatocellular carcinoma	18803288	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17001317	CNVD
Urothelial carcinoma	21177765	CNVD
Burkitt''s lymphoma	19759907	CNVD
Acute myeloid leukemia	21251322	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Testicular germ cell tumor	18059402	CNVD
Trisomy 5 syndrome	21098271	CNVD
Ependymoma	18628472	CNVD
Leukemia	18628472	CNVD
Neuroblastoma	18923191	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175400000-175413800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:175402200-175403800	Enhancers	Fetal Stomach	stomach
3	chr1:175402400-175403800	Enhancers	Fetal Brain Male	brain
4	chr1:175403000-175404400	Weak transcription	Fetal Kidney	kidney
5	chr1:175403400-175403600	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr1:175403400-175403600	Enhancers	Fetal Muscle Leg	muscle
7	chr1:175404400-175404600	ZNF genes & repeats	Fetal Kidney	kidney
8	chr1:175410800-175411600	Enhancers	Fetal Brain Male	brain
9	chr1:175411600-175414800	Weak transcription	Fetal Brain Male	brain

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