Variant report

Variant	nsv548354
Chromosome Location	chr1:180751636-180755321
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 137 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:137 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555958419	chr1:180751673-180751674	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114965091	chr1:180751689-180751690	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs567851462	chr1:180751724-180751725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs72723026	chr1:180751731-180751732	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs375215730	chr1:180751750-180751751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs112741163	chr1:180751769-180751770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191260174	chr1:180751819-180751820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs182503647	chr1:180751821-180751822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555993988	chr1:180751823-180751824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs187540916	chr1:180751852-180751853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs561167350	chr1:180751859-180751860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139817252	chr1:180751867-180751868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369539665	chr1:180751888-180751889	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs192312920	chr1:180751899-180751900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs568879912	chr1:180751905-180751906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs35556631	chr1:180751942-180751943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs374108778	chr1:180751976-180751977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569513860	chr1:180751983-180751984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs143433224	chr1:180751994-180751995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs3002123	chr1:180752003-180752004	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs551318793	chr1:180752018-180752019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570033311	chr1:180752051-180752052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs531072567	chr1:180752126-180752127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs549306509	chr1:180752166-180752167	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374772311	chr1:180752235-180752236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188919207	chr1:180752285-180752286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534953724	chr1:180752324-180752325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546913231	chr1:180752354-180752355	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193220419	chr1:180752392-180752393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs539047382	chr1:180752410-180752411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs369709656	chr1:180752421-180752422	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs557776192	chr1:180752629-180752630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573021933	chr1:180752636-180752637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541649463	chr1:180752656-180752657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs79363411	chr1:180752704-180752705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs537154541	chr1:180752823-180752824	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555229468	chr1:180752824-180752825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373439264	chr1:180752842-180752843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573895008	chr1:180752843-180752844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs533793500	chr1:180752844-180752845	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs541303843	chr1:180752855-180752856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559664475	chr1:180752878-180752879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs116658788	chr1:180752914-180752915	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139129099	chr1:180752916-180752917	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563746817	chr1:180752917-180752918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12120797	chr1:180752928-180752929	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs184436456	chr1:180753008-180753009	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561120689	chr1:180753011-180753012	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs59543576	chr1:180753012-180753013	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs546827348	chr1:180753042-180753043	Enhancers Weak 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
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:60 , 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	chr1:180740200-180753000	Weak transcription	Small Intestine	intestine
3	chr1:180740200-180761000	Weak transcription	Psoas Muscle	Psoas
4	chr1:180740800-180775600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:180741000-180757200	Weak transcription	Primary B cells from cord blood	blood
6	chr1:180741600-180784000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:180743400-180757200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr1:180743400-180763000	Weak transcription	HSMM	muscle
9	chr1:180744000-180757200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:180747000-180756800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:180747800-180761000	Weak transcription	Aorta	Aorta
12	chr1:180748200-180755800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:180749400-180761200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr1:180749600-180761200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:180751000-180751800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:180751000-180753000	Enhancers	Left Ventricle	heart
17	chr1:180751200-180752400	Enhancers	Brain Anterior Caudate	brain
18	chr1:180751400-180751800	Enhancers	Brain Angular Gyrus	brain
19	chr1:180751400-180751800	Enhancers	Brain Substantia Nigra	brain
20	chr1:180751400-180751800	Enhancers	Fetal Brain Male	brain
21	chr1:180751400-180774600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr1:180751600-180751800	Enhancers	Fetal Brain Female	brain
23	chr1:180751800-180752800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:180751800-180754000	Weak transcription	Fetal Brain Male	brain
25	chr1:180751800-180755000	Weak transcription	Fetal Brain Female	brain
26	chr1:180752800-180753200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:180753000-180753200	Enhancers	Small Intestine	intestine
28	chr1:180753000-180756600	Weak transcription	Left Ventricle	heart
29	chr1:180753200-180754000	Weak transcription	Small Intestine	intestine
30	chr1:180753200-180754200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:180754000-180754800	Enhancers	A549	lung
32	chr1:180754000-180755000	Enhancers	Osteobl	bone
33	chr1:180754000-180756800	Enhancers	Fetal Brain Male	brain
34	chr1:180754200-180754400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:180754200-180754400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:180754200-180754600	Enhancers	Pancreas	Pancrea
37	chr1:180754200-180754600	Enhancers	Stomach Mucosa	stomach
38	chr1:180754200-180754600	Enhancers	NHLF	lung
39	chr1:180754200-180754800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr1:180754200-180756000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:180754400-180754600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:180754400-180761000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:180754400-180761200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:180754600-180755800	Weak transcription	Pancreas	Pancrea
45	chr1:180754600-180758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr1:180754600-180763400	Weak transcription	NHLF	lung
47	chr1:180754800-180755200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:180754800-180755200	Weak transcription	Liver	Liver
49	chr1:180754800-180757000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:180754800-180763800	Weak transcription	A549	lung

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