Variant report

Variant	nsv519599
Chromosome Location	chr5:120686298-120703917
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	chr5:120684041..120685887-chr5:120689318..120691883,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FTMT-3	chr5:120698697-120701009	NONHSAT103459
2	lnc-FTMT-2	chr5:120692501-120693093	ENSG00000229855.4

Extended variants
information (count: 368 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6865013	chr5:120686298-120686299	Active TSS Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs377736320	chr5:120686303-120686304	Active TSS Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556374017	chr5:120686417-120686418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529619859	chr5:120686465-120686466	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574748500	chr5:120686472-120686473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542170471	chr5:120686483-120686484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs10065954	chr5:120686486-120686487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10073882	chr5:120686518-120686519	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76595452	chr5:120686536-120686537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564333805	chr5:120686546-120686547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs532080898	chr5:120686551-120686552	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191642671	chr5:120686591-120686592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs73277919	chr5:120686600-120686601	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs558771746	chr5:120690814-120690815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577181958	chr5:120690818-120690819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs10478512	chr5:120690843-120690844	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs75969052	chr5:120690852-120690853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs372498172	chr5:120690853-120690854	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542057739	chr5:120690922-120690923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs375518238	chr5:120690957-120690958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560310053	chr5:120690965-120690966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs527832265	chr5:120690967-120690968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs116008440	chr5:120691000-120691001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571092168	chr5:120691097-120691098	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532034037	chr5:120691107-120691108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10463740	chr5:120691130-120691131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs139969457	chr5:120691206-120691207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs143605064	chr5:120691249-120691250	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146778868	chr5:120691344-120691345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116317764	chr5:120691358-120691359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs114953367	chr5:120691359-120691360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs558598977	chr5:120691382-120691383	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs199887161	chr5:120691396-120691397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs200981397	chr5:120691397-120691398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs143176550	chr5:120691400-120691401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577043012	chr5:120691424-120691425	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs17457980	chr5:120691450-120691451	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs80187357	chr5:120691495-120691496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs192459999	chr5:120691506-120691507	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs17458039	chr5:120691525-120691526	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs184433260	chr5:120691544-120691545	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139623382	chr5:120691561-120691562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572321628	chr5:120691573-120691574	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs114068502	chr5:120691641-120691642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs564655370	chr5:120691698-120691699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144247637	chr5:120691703-120691704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113219592	chr5:120691710-120691711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs550348821	chr5:120691712-120691713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs193255783	chr5:120691724-120691725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529668485	chr5:120691733-120691734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
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
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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:120686000-120686400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:120686000-120686400	Enhancers	Dnd41	blood
3	chr5:120686000-120686400	Flanking Active TSS	NHDF-Ad	bronchial
4	chr5:120686200-120686600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr5:120690800-120691600	Enhancers	Fetal Lung	lung
6	chr5:120691600-120692600	Weak transcription	Fetal Lung	lung
7	chr5:120692600-120692800	Enhancers	Fetal Lung	lung
8	chr5:120693400-120694200	Enhancers	A549	lung
9	chr5:120694200-120695400	Flanking Active TSS	A549	lung
10	chr5:120701800-120702400	Enhancers	HMEC	breast
11	chr5:120701800-120702600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:120701800-120702800	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:120702000-120702400	Enhancers	A549	lung
14	chr5:120702000-120702400	Enhancers	Hela-S3	cervix
15	chr5:120702000-120702800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:120702200-120702600	Enhancers	NHDF-Ad	bronchial

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