Variant report

Variant	nsv548350
Chromosome Location	chr1:180750701-180755188
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180744340..180747816-chr1:180748968..180751117,3	K562	blood:
2	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:
3	chr1:180745041..180748081-chr1:180751703..180755514,3	MCF-7	breast:
4	chr1:180752587..180754098-chr1:180771744..180774694,2	K562	blood:
5	chr1:180750632..180752592-chr1:180753613..180756840,3	K562	blood:

Extended variants
information (count: 157 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:157 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567141334	chr1:180750729-180750730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs566169303	chr1:180750745-180750746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545300898	chr1:180750795-180750796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs186452704	chr1:180750803-180750804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs115653369	chr1:180750804-180750805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs537714990	chr1:180750821-180750822	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10798792	chr1:180750830-180750831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs574300609	chr1:180750846-180750847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs541408302	chr1:180750852-180750853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144355997	chr1:180750874-180750875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs192191698	chr1:180750986-180750987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4652530	chr1:180750997-180750998	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs549319452	chr1:180751005-180751006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs61811196	chr1:180751124-180751125	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs543630475	chr1:180751193-180751194	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs561819903	chr1:180751214-180751215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529245813	chr1:180751219-180751220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142505837	chr1:180751232-180751233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs11405062	chr1:180751281-180751282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs33968119	chr1:180751283-180751284	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs398049816	chr1:180751289-180751290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs528904525	chr1:180751290-180751291	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75127788	chr1:180751333-180751334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182698939	chr1:180751354-180751355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185936319	chr1:180751445-180751446	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371139152	chr1:180751513-180751514	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372580446	chr1:180751514-180751515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs555958419	chr1:180751673-180751674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs114965091	chr1:180751689-180751690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567851462	chr1:180751724-180751725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs72723026	chr1:180751731-180751732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs375215730	chr1:180751750-180751751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs112741163	chr1:180751769-180751770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs191260174	chr1:180751819-180751820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs182503647	chr1:180751821-180751822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs555993988	chr1:180751823-180751824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs187540916	chr1:180751852-180751853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561167350	chr1:180751859-180751860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs139817252	chr1:180751867-180751868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369539665	chr1:180751888-180751889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192312920	chr1:180751899-180751900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs568879912	chr1:180751905-180751906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs35556631	chr1:180751942-180751943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs374108778	chr1:180751976-180751977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569513860	chr1:180751983-180751984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs143433224	chr1:180751994-180751995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs3002123	chr1:180752003-180752004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs551318793	chr1:180752018-180752019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs570033311	chr1:180752051-180752052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs531072567	chr1:180752126-180752127	Weak transcription Enhancers	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
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
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
Urothelial carcinoma	21177765	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21509527	CNVD
Glioblastoma multiforme	17369134	CNVD
Cancer	17440070	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21611746	CNVD
Breast cancer	16397240	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	23248035	CNVD
Metanephric adenoma	20802469	CNVD
Renal cell carcinoma	18765545	CNVD
Nephroblastoma	17189400	CNVD
Breast cancer	22522925	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180713000-180814200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:180722600-180751000	Weak transcription	Left Ventricle	heart
3	chr1:180738000-180751200	Weak transcription	Brain Anterior Caudate	brain
4	chr1:180740200-180751000	Weak transcription	Fetal Brain Female	brain
5	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
6	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
7	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
9	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:180743400-180763000	Weak transcription	HSMM	muscle
12	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
13	chr1:180744400-180751000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:180746600-180751400	Weak transcription	Fetal Brain Male	brain
15	chr1:180747000-180756800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:180747800-180761000	Weak transcription	Aorta	Aorta
17	chr1:180748200-180755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:180749400-180761200	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr1:180749600-180761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr1:180751000-180751200	Enhancers	Fetal Brain Female	brain
21	chr1:180751000-180751400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:180751000-180751600	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr1:180751000-180751800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:180751000-180753000	Enhancers	Left Ventricle	heart
25	chr1:180751200-180751600	Weak transcription	Fetal Brain Female	brain
26	chr1:180751200-180752400	Enhancers	Brain Anterior Caudate	brain
27	chr1:180751400-180751800	Enhancers	Brain Angular Gyrus	brain
28	chr1:180751400-180751800	Enhancers	Brain Substantia Nigra	brain
29	chr1:180751400-180751800	Enhancers	Fetal Brain Male	brain
30	chr1:180751400-180774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:180751600-180751800	Enhancers	Fetal Brain Female	brain
32	chr1:180751800-180752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:180751800-180754000	Weak transcription	Fetal Brain Male	brain
34	chr1:180751800-180755000	Weak transcription	Fetal Brain Female	brain
35	chr1:180752800-180753200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr1:180753000-180753200	Enhancers	Small Intestine	intestine
37	chr1:180753000-180756600	Weak transcription	Left Ventricle	heart
38	chr1:180753200-180754000	Weak transcription	Small Intestine	intestine
39	chr1:180753200-180754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:180754000-180754800	Enhancers	A549	lung
41	chr1:180754000-180755000	Enhancers	Osteobl	bone
42	chr1:180754000-180756800	Enhancers	Fetal Brain Male	brain
43	chr1:180754200-180754400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:180754200-180754400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr1:180754200-180754600	Enhancers	Pancreas	Pancrea
46	chr1:180754200-180754600	Enhancers	Stomach Mucosa	stomach
47	chr1:180754200-180754600	Enhancers	NHLF	lung
48	chr1:180754200-180754800	Enhancers	Muscle Satellite Cultured Cells	--
49	chr1:180754200-180756000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:180754400-180754600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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