Variant report

Variant	nsv599204
Chromosome Location	chr5:103462634-103491763
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:103471677..103474624-chr5:103476498..103479218,3	K562	blood:
2	chr5:103457491..103460470-chr5:103461243..103465378,4	K562	blood:
3	chr5:103472133..103474624-chr5:103476667..103479218,2	K562	blood:
4	chr5:103469361..103471032-chr5:103473793..103476182,2	K562	blood:
5	chr5:103472133..103474624-chr5:103476667..103479218,2	K562	blood:
6	chr5:103467212..103468815-chr5:103480734..103482743,2	K562	blood:
7	chr5:103440945..103442591-chr5:103463038..103465422,2	K562	blood:
8	chr5:103471677..103474624-chr5:103476498..103479218,3	K562	blood:
9	chr5:103467212..103468815-chr5:103480734..103482743,2	K562	blood:
10	chr5:103469361..103471032-chr5:103473793..103476182,2	K562	blood:
11	chr5:103488217..103490726-chr5:103523272..103524966,2	K562	blood:

No data

Extended variants
information (count: 229 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1882567	chr5:103462634-103462635	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs528628094	chr5:103462642-103462643	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367976628	chr5:103462684-103462685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182950951	chr5:103462690-103462691	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs537015712	chr5:103462726-103462727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551264306	chr5:103462829-103462830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs567816281	chr5:103462845-103462846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs538028634	chr5:103462865-103462866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs115434357	chr5:103462942-103462943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560497969	chr5:103462984-103462985	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566702941	chr5:103462999-103463000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs367993078	chr5:103472222-103472223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs184517174	chr5:103472236-103472237	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs113990061	chr5:103472240-103472241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73775536	chr5:103472331-103472332	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs139374286	chr5:103472335-103472336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201981888	chr5:103472339-103472340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs556055175	chr5:103472359-103472360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145538682	chr5:103472361-103472362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534951090	chr5:103472418-103472419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558318978	chr5:103472475-103472476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576896132	chr5:103472476-103472477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371750963	chr5:103472485-103472486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545473232	chr5:103472487-103472488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575749609	chr5:103472498-103472499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34789481	chr5:103472502-103472503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7703671	chr5:103472509-103472510	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs555764587	chr5:103472516-103472517	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs575600877	chr5:103472565-103472566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs541732562	chr5:103472571-103472572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188783540	chr5:103472584-103472585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs527581020	chr5:103472607-103472608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540909391	chr5:103472611-103472612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs564291450	chr5:103472629-103472630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2141882	chr5:103472640-103472641	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs550263284	chr5:103472665-103472666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs147337121	chr5:103472669-103472670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62361944	chr5:103472687-103472688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs558646862	chr5:103472688-103472689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529256495	chr5:103472697-103472698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs11745594	chr5:103472704-103472705	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs140433173	chr5:103472707-103472708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs559699994	chr5:103472713-103472714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11955569	chr5:103472789-103472790	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs141018368	chr5:103472794-103472795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs563545117	chr5:103472826-103472827	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs558093768	chr5:103472834-103472835	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs530607574	chr5:103472849-103472850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs539164795	chr5:103472852-103472853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs555801462	chr5:103472900-103472901	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:103462000-103463000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr5:103472200-103474400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:103472400-103473600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:103480200-103480800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:103480400-103483400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:103480800-103481000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:103481000-103482400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:103482000-103483000	Enhancers	Colon Smooth Muscle	Colon
9	chr5:103482200-103483000	Enhancers	Rectal Smooth Muscle	rectum
10	chr5:103482200-103483400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:103482200-103483400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:103482400-103483000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:103482400-103483400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr5:103482400-103483400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:103482400-103483400	Enhancers	Fetal Kidney	kidney
16	chr5:103482400-103483600	Enhancers	Fetal Lung	lung
17	chr5:103482800-103483400	Enhancers	Fetal Stomach	stomach

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