Variant report

Variant	nsv517988
Chromosome Location	chr5:111412336-111432013
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	chr5:111427178..111429315-chr5:111442008..111443800,2	K562	blood:

Extended variants
information (count: 468 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2913546	chr5:111412611-111412612	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530276779	chr5:111412617-111412618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576155046	chr5:111412637-111412638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs543532830	chr5:111412640-111412641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs190881931	chr5:111412651-111412652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11960552	chr5:111412656-111412657	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs532201739	chr5:111412702-111412703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs183093629	chr5:111412715-111412716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs375245439	chr5:111412761-111412762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558878947	chr5:111412769-111412770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs59485311	chr5:111412790-111412791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs6861391	chr5:111412808-111412809	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs114734371	chr5:111412827-111412828	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs563672732	chr5:111412843-111412844	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs570256604	chr5:111412845-111412846	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs568880812	chr5:111412906-111412907	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537229653	chr5:111412912-111412913	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs537873165	chr5:111412932-111412933	Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs187430521	chr5:111413025-111413026	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs551725036	chr5:111413033-111413034	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs570127526	chr5:111413104-111413105	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535072963	chr5:111413111-111413112	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs528146865	chr5:111413118-111413119	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs574875488	chr5:111413150-111413151	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs34646517	chr5:111413234-111413235	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs192865421	chr5:111413236-111413237	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs144282461	chr5:111413248-111413249	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs201162003	chr5:111413287-111413288	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs145370861	chr5:111413303-111413304	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs148764502	chr5:111413325-111413326	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs142465856	chr5:111413350-111413351	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs147234851	chr5:111413362-111413363	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs35758693	chr5:111413371-111413372	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs369480809	chr5:111413372-111413373	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs540686639	chr5:111413376-111413377	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs558966802	chr5:111413385-111413386	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs529619188	chr5:111413417-111413418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs256046	chr5:111413428-111413429	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs563840453	chr5:111413442-111413443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531204457	chr5:111413454-111413455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs151315733	chr5:111413459-111413460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557279920	chr5:111413482-111413483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs141131469	chr5:111413552-111413553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs377027977	chr5:111413597-111413598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs558217672	chr5:111419205-111419206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs30349	chr5:111419303-111419304	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs539377397	chr5:111419304-111419305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs111365608	chr5:111419312-111419313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540649926	chr5:111419315-111419316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs527551548	chr5:111419357-111419358	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
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	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
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111412600-111412800	Enhancers	GM12878-XiMat	blood
2	chr5:111412800-111413400	Flanking Active TSS	GM12878-XiMat	blood
3	chr5:111413000-111413400	Enhancers	Dnd41	blood
4	chr5:111413000-111413600	Enhancers	NHDF-Ad	bronchial
5	chr5:111419200-111420000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:111419400-111420000	Enhancers	Fetal Lung	lung
7	chr5:111419800-111420400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:111423000-111423400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:111423600-111429000	Weak transcription	Pancreas	Pancrea
10	chr5:111429000-111429200	ZNF genes & repeats	Aorta	Aorta
11	chr5:111429000-111429200	ZNF genes & repeats	Pancreas	Pancrea
12	chr5:111429200-111443400	Weak transcription	Aorta	Aorta
13	chr5:111429200-111456200	Weak transcription	Pancreas	Pancrea

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