Variant report

Variant	nsv1020499
Chromosome Location	chr5:99061804-99159742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
2	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
3	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
4	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
5	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:
6	chr5:99100175..99102793-chr5:99107234..99109956,2	MCF-7	breast:

Extended variants
information (count: 620 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:620 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538879679	chr5:99066039-99066040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569114232	chr5:99066054-99066055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs397833915	chr5:99066063-99066064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569176871	chr5:99066083-99066084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs182754351	chr5:99066085-99066086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs562622224	chr5:99066091-99066092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs617818	chr5:99066093-99066094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs637060	chr5:99066109-99066110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs637047	chr5:99066120-99066121	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs637045	chr5:99066128-99066129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376203660	chr5:99066202-99066203	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs139331448	chr5:99066212-99066213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs535102058	chr5:99066256-99066257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs626095	chr5:99066287-99066288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs13173030	chr5:99066354-99066355	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577811913	chr5:99066387-99066388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545199607	chr5:99066396-99066397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs563597083	chr5:99066434-99066435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575906344	chr5:99066450-99066451	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542229169	chr5:99066471-99066472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs115598344	chr5:99066494-99066495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs528110838	chr5:99066498-99066499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs546711499	chr5:99066521-99066522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565022859	chr5:99066549-99066550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114667214	chr5:99066564-99066565	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs550805312	chr5:99066570-99066571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs116607215	chr5:99066580-99066581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs536571405	chr5:99066582-99066583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs187501480	chr5:99066596-99066597	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567640757	chr5:99066720-99066721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372425059	chr5:99066798-99066799	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534741104	chr5:99066805-99066806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs191885974	chr5:99066849-99066850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571416566	chr5:99066882-99066883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs538810268	chr5:99066883-99066884	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527610507	chr5:99066919-99066920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557152520	chr5:99066970-99066971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs28540114	chr5:99067053-99067054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs369882304	chr5:99067119-99067120	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs543291784	chr5:99067124-99067125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555006077	chr5:99067234-99067235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572796243	chr5:99067277-99067278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374022362	chr5:99067287-99067288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182977099	chr5:99067291-99067292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs564933854	chr5:99067302-99067303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549284831	chr5:99067379-99067380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs532260646	chr5:99067402-99067403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544394127	chr5:99067428-99067429	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187592603	chr5:99067546-99067547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs191246660	chr5:99067558-99067559	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	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
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Acute lymphoblastic leukemia	21248843	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99066000-99069000	Enhancers	HUVEC	blood vessel
2	chr5:99068600-99069000	Enhancers	Fetal Heart	heart
3	chr5:99098800-99099600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr5:99099000-99099600	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr5:99099000-99099600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr5:99099000-99099800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr5:99106400-99107600	Enhancers	Muscle Satellite Cultured Cells	--
8	chr5:99106400-99109400	Enhancers	HUVEC	blood vessel
9	chr5:99106600-99108000	Enhancers	NHEK	skin
10	chr5:99107200-99107600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr5:99107200-99107600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:99107200-99107600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr5:99107200-99110600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:99107400-99107800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:99107600-99108000	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr5:99108800-99109600	Enhancers	Fetal Lung	lung
17	chr5:99109800-99110400	Enhancers	Fetal Heart	heart
18	chr5:99129600-99130200	Enhancers	HUVEC	blood vessel
19	chr5:99130000-99131800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:99130200-99131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:99130400-99131000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr5:99150000-99150400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr5:99153600-99159400	Weak transcription	Pancreas	Pancrea
24	chr5:99159400-99159600	ZNF genes & repeats	Pancreas	Pancrea

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