Variant report

Variant	nsv1028124
Chromosome Location	chr5:103994438-104028909
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:104028054..104030764-chr5:104032138..104034804,2	K562	blood:
2	chr5:103987247..103989988-chr5:103992385..103995079,2	MCF-7	breast:
3	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:184 , 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	rs189012009	chr5:103994457-103994458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs535616184	chr5:103994461-103994462	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs555318909	chr5:103994471-103994472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs571998760	chr5:103994510-103994511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs540936260	chr5:103994558-103994559	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557281430	chr5:103994564-103994565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs577237801	chr5:103994565-103994566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564562615	chr5:103994619-103994620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs112596480	chr5:103994627-103994628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs566367318	chr5:103994651-103994652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs529009132	chr5:103994663-103994664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs146792537	chr5:103994686-103994687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs116583379	chr5:103994746-103994747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs528495746	chr5:103994764-103994765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528757336	chr5:103994817-103994818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs114333442	chr5:103994850-103994851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571641280	chr5:103994865-103994866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs141087117	chr5:103994870-103994871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs13184351	chr5:103994882-103994883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs571535907	chr5:103994915-103994916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550734274	chr5:103994920-103994921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs13184492	chr5:103994921-103994922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs144887078	chr5:103994923-103994924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs13184493	chr5:103994925-103994926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372268011	chr5:103994948-103994949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547014405	chr5:103994969-103994970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs181463009	chr5:103994982-103994983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565541506	chr5:103995014-103995015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs10718052	chr5:103995024-103995025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs72782581	chr5:103995039-103995040	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551224354	chr5:103995061-103995062	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557643259	chr5:103995092-103995093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369230935	chr5:103995097-103995098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577548567	chr5:103995118-103995119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7704827	chr5:103995123-103995124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs534965320	chr5:103995144-103995145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs376266215	chr5:103995153-103995154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs369188232	chr5:103995172-103995173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148874246	chr5:103995180-103995181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs143575300	chr5:103995182-103995183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545683200	chr5:103995183-103995184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs148001611	chr5:103995244-103995245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs531155182	chr5:103995246-103995247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373487785	chr5:103995294-103995295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs113799075	chr5:103995295-103995296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs325485	chr5:103995368-103995369	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs140794715	chr5:103995402-103995403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs546708971	chr5:103995427-103995428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs117787000	chr5:103995428-103995429	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs184111008	chr5:103995432-103995433	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Obesity	20622171	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103992200-103995200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr5:103992400-103996400	Weak transcription	Colon Smooth Muscle	Colon
3	chr5:103995200-103996000	Enhancers	Rectal Smooth Muscle	rectum
4	chr5:103995200-103996600	Enhancers	HUVEC	blood vessel
5	chr5:103996000-103997000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr5:103996400-103997800	Enhancers	Colon Smooth Muscle	Colon
7	chr5:103997000-103997200	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:104023800-104024600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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