Variant report

Variant	nsv872981
Chromosome Location	chr1:196676713-196684575
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 332 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs33915960	chr1:196676713-196676714	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568136708	chr1:196676750-196676751	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs118086763	chr1:196676772-196676773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs546316178	chr1:196676829-196676830	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577569455	chr1:196676884-196676885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs556519685	chr1:196676934-196676935	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10733086	chr1:196676935-196676936	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs538281210	chr1:196676960-196676961	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs71631863	chr1:196676973-196676974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs539064658	chr1:196676990-196676991	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557992857	chr1:196677013-196677014	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573461587	chr1:196677027-196677028	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs540818887	chr1:196677075-196677076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs555725288	chr1:196677103-196677104	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368098885	chr1:196677119-196677120	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556555077	chr1:196677131-196677132	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1410997	chr1:196677163-196677164	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs78055847	chr1:196677228-196677229	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs558961255	chr1:196677290-196677291	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75781652	chr1:196677300-196677301	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562985918	chr1:196677327-196677328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs116636932	chr1:196677353-196677354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146498044	chr1:196677371-196677372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369236793	chr1:196677410-196677411	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs139588711	chr1:196677443-196677444	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs545423050	chr1:196677474-196677475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564400012	chr1:196677480-196677481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149736513	chr1:196677496-196677497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572634757	chr1:196677501-196677502	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs185808968	chr1:196677512-196677513	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568189358	chr1:196677603-196677604	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529109684	chr1:196677680-196677681	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs542832508	chr1:196677743-196677744	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11398897	chr1:196677744-196677745	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376948690	chr1:196677748-196677749	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs386369226	chr1:196677749-196677750	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554697517	chr1:196677767-196677768	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs6664705	chr1:196677842-196677843	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs12406047	chr1:196677898-196677899	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs543785465	chr1:196677911-196677912	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs203685	chr1:196677945-196677946	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs75049744	chr1:196677962-196677963	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555908966	chr1:196677967-196677968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs574116237	chr1:196677978-196677979	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs544828264	chr1:196677982-196677983	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs203684	chr1:196678009-196678010	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs376797190	chr1:196678026-196678027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs371539326	chr1:196678035-196678036	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566466378	chr1:196678058-196678059	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs578176098	chr1:196678059-196678060	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Esophageal squamous carcinoma	21637470	CNVD
HIV/AIDS	22032296	CNVD
Schizophrenia	19415332	CNVD
Autism	22495311	CNVD
Liposarcoma	21253554	CNVD
Burkitt''s lymphoma	18698080	CNVD
Melanoma	18172304	CNVD
Rett syndrome	21593744	CNVD
Cancer	20164919	CNVD
Medulloblastoma	21979893	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17133270	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
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17002787	CNVD
Breast cancer	21858162	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
Hepatocellular carcinoma	18803288	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
Prostate cancer	18632612	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
Endometrioid adenocarcinoma	16974079	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21611746	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	17393978	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Non-small cell lung cancer	19010865	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Trisomy 5 syndrome	21098271	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Mental retardation	21062444	CNVD
Liver carcinoma	19366792	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Chordoma	18071362	CNVD
small cell lung cancer	20016488	CNVD
Neuroblastoma	20406844	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196628800-196679400	Weak transcription	Psoas Muscle	Psoas
2	chr1:196640000-196676800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr1:196646000-196678400	Weak transcription	K562	blood
4	chr1:196648400-196706200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:196649600-196707200	Weak transcription	Osteobl	bone
6	chr1:196660000-196692600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:196668600-196678200	Strong transcription	Liver	Liver
8	chr1:196669200-196676800	Strong transcription	Fetal Muscle Leg	muscle
9	chr1:196671000-196685400	Weak transcription	Adipose Nuclei	Adipose
10	chr1:196671400-196695600	Weak transcription	HSMM	muscle
11	chr1:196673600-196692600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:196674000-196706600	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr1:196675800-196685400	Weak transcription	Dnd41	blood
14	chr1:196675800-196686800	Weak transcription	Ovary	ovary
15	chr1:196676000-196700600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr1:196676200-196692400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr1:196676600-196685400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:196676800-196692800	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:196678200-196682600	Weak transcription	Liver	Liver
20	chr1:196678600-196707000	Weak transcription	HSMMtube	muscle
21	chr1:196679400-196679600	Enhancers	Psoas Muscle	Psoas
22	chr1:196682600-196686800	Strong transcription	Liver	Liver

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