Variant report

Variant	nsv1022359
Chromosome Location	chr5:103990539-104025422
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:103761403..103764401-chr5:103998452..104000157,2	MCF-7	breast:
2	chr5:103987247..103989988-chr5:103992385..103995079,2	MCF-7	breast:
3	chr5:103984998..103987505-chr5:103990796..103992380,2	MCF-7	breast:

Extended variants
information (count: 309 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:309 , 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	rs367555735	chr5:103992005-103992006	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560430996	chr5:103992037-103992038	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372139722	chr5:103992039-103992040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545772247	chr5:103992057-103992058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs79931550	chr5:103992094-103992095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191139159	chr5:103992103-103992104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548402835	chr5:103992124-103992125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs561108888	chr5:103992125-103992126	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs180803553	chr5:103992141-103992142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs375163091	chr5:103992175-103992176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187640737	chr5:103992182-103992183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563479239	chr5:103992189-103992190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs325484	chr5:103992200-103992201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115231086	chr5:103992203-103992204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551838537	chr5:103992218-103992219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568876423	chr5:103992255-103992256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs556477230	chr5:103992263-103992264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs537897071	chr5:103992270-103992271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147147419	chr5:103992277-103992278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574945758	chr5:103992280-103992281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565357837	chr5:103992295-103992296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs141005161	chr5:103992328-103992329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs386690726	chr5:103992333-103992334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs74776852	chr5:103992334-103992335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs374826308	chr5:103992335-103992336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs35577215	chr5:103992341-103992342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs562503199	chr5:103992349-103992350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs183871156	chr5:103992367-103992368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs75028278	chr5:103992393-103992394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs562026261	chr5:103992428-103992429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527813028	chr5:103992442-103992443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs187545518	chr5:103992462-103992463	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs540048376	chr5:103992489-103992490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368573150	chr5:103992527-103992528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7445539	chr5:103992528-103992529	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs75730817	chr5:103992534-103992535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs568845451	chr5:103992552-103992553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs531226136	chr5:103992556-103992557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs571347572	chr5:103992602-103992603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548206213	chr5:103992603-103992604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568044216	chr5:103992609-103992610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs116487457	chr5:103992620-103992621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs553937108	chr5:103992621-103992622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148560089	chr5:103992625-103992626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75208490	chr5:103992663-103992664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs372676551	chr5:103992672-103992673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528451719	chr5:103992697-103992698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs576707221	chr5:103992719-103992720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs190503562	chr5:103992737-103992738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374757448	chr5:103992742-103992743	Weak transcription	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:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103992000-103992200	Enhancers	Rectal Smooth Muscle	rectum
2	chr5:103992200-103995200	Weak transcription	Rectal Smooth Muscle	rectum
3	chr5:103992400-103996400	Weak transcription	Colon Smooth Muscle	Colon
4	chr5:103995200-103996000	Enhancers	Rectal Smooth Muscle	rectum
5	chr5:103995200-103996600	Enhancers	HUVEC	blood vessel
6	chr5:103996000-103997000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr5:103996400-103997800	Enhancers	Colon Smooth Muscle	Colon
8	chr5:103997000-103997200	Enhancers	Rectal Smooth Muscle	rectum
9	chr5:104023800-104024600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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