Variant report

Variant	nsv971547
Chromosome Location	chr7:144947296-144950761
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:144939623..144941287-chr7:144948474..144950817,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562679089	chr7:144948700-144948701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs74584052	chr7:144948786-144948787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs541872538	chr7:144948812-144948813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs560172847	chr7:144948818-144948819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs542820817	chr7:144948877-144948878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs527407214	chr7:144948880-144948881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs535861546	chr7:144948895-144948896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571881986	chr7:144948898-144948899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs532639083	chr7:144948937-144948938	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs207468705	chr7:144948943-144948944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114102099	chr7:144948952-144948953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2107889	chr7:144949011-144949012	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs371492179	chr7:144949040-144949041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs536935970	chr7:144949061-144949062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546785468	chr7:144949106-144949107	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566499912	chr7:144949121-144949122	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34586568	chr7:144949162-144949163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs534031160	chr7:144949186-144949187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189071503	chr7:144949194-144949195	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146416667	chr7:144949226-144949227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537689628	chr7:144949239-144949240	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73733297	chr7:144949266-144949267	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs574675619	chr7:144949275-144949276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543414643	chr7:144949449-144949450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs75109487	chr7:144949525-144949526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561764945	chr7:144949531-144949532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs560197319	chr7:144949596-144949597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs6953652	chr7:144949614-144949615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545807892	chr7:144949673-144949674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs12703671	chr7:144949712-144949713	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs77301416	chr7:144949714-144949715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550928627	chr7:144949717-144949718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs563064375	chr7:144949763-144949764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs114301000	chr7:144949826-144949827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs367771608	chr7:144949874-144949875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548427483	chr7:144949878-144949879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566536781	chr7:144949989-144949990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs192284347	chr7:144949997-144949998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114971599	chr7:144950083-144950084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552149163	chr7:144950117-144950118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs570882669	chr7:144950182-144950183	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:144948600-144949400	Enhancers	Fetal Lung	lung
2	chr7:144949400-144950000	Weak transcription	Fetal Lung	lung
3	chr7:144950000-144950200	Enhancers	Fetal Lung	lung

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