Variant report

Variant	nsv1030781
Chromosome Location	chr5:99541966-99581524
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 340 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:340 , 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	rs541690888	chr5:99542635-99542636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373537451	chr5:99542661-99542662	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560308302	chr5:99542676-99542677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs569373832	chr5:99542687-99542688	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61382100	chr5:99542726-99542727	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs546131116	chr5:99542879-99542880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs142224264	chr5:99542891-99542892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs116607464	chr5:99542893-99542894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550974258	chr5:99542900-99542901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs60716931	chr5:99542908-99542909	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs530228378	chr5:99542965-99542966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548365350	chr5:99542980-99542981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs57189626	chr5:99543003-99543004	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs534092355	chr5:99543022-99543023	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs148171070	chr5:99543065-99543066	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs116014053	chr5:99543074-99543075	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs537474849	chr5:99543080-99543081	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs370210275	chr5:99543084-99543085	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs534531335	chr5:99543122-99543123	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs116263968	chr5:99543143-99543144	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs375129354	chr5:99543166-99543167	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs535555696	chr5:99543189-99543190	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs181573527	chr5:99543218-99543219	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs553202391	chr5:99543221-99543222	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs73776415	chr5:99546204-99546205	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73776416	chr5:99546260-99546261	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73776417	chr5:99546263-99546264	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs567349801	chr5:99546283-99546284	Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534772677	chr5:99546299-99546300	Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs73776418	chr5:99546373-99546374	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575742749	chr5:99546384-99546385	Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs545886560	chr5:99546414-99546415	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs145805286	chr5:99546438-99546439	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs73776420	chr5:99546458-99546459	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs557747378	chr5:99546506-99546507	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs138301305	chr5:99546511-99546512	Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs73158069	chr5:99546514-99546515	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555790331	chr5:99546521-99546522	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs374619633	chr5:99546544-99546545	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs149230741	chr5:99546548-99546549	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs544083112	chr5:99558213-99558214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs561676924	chr5:99558220-99558221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528889477	chr5:99558230-99558231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs192803826	chr5:99558243-99558244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541177835	chr5:99558292-99558293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184435247	chr5:99558336-99558337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs553375023	chr5:99558346-99558347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533015879	chr5:99558353-99558354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187716053	chr5:99558359-99558360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs569721548	chr5:99558441-99558442	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99542600-99543400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr5:99542800-99543200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:99543000-99543400	Active TSS	Fetal Lung	lung
4	chr5:99546200-99546600	Active TSS	Fetal Heart	heart
5	chr5:99558200-99559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:99558200-99560400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:99564800-99567800	Weak transcription	Fetal Brain Male	brain
8	chr5:99567800-99568600	Enhancers	Fetal Brain Male	brain
9	chr5:99568000-99568600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:99568000-99569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:99568200-99569000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr5:99568200-99569000	Enhancers	Fetal Brain Female	brain
13	chr5:99572200-99572600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr5:99572200-99572800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr5:99574200-99574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr5:99578600-99579000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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