Variant report

Variant	nsv1022955
Chromosome Location	chr5:100732031-100758839
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 229 )
Associated
traits (count: 86 )

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	rs549827846	chr5:100738821-100738822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562041985	chr5:100738910-100738911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs183129218	chr5:100738944-100738945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs377742441	chr5:100738981-100738982	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs376064217	chr5:100738983-100738984	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs142791174	chr5:100738993-100738994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75470291	chr5:100739035-100739036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374532731	chr5:100739055-100739056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs73780710	chr5:100739066-100739067	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs532015471	chr5:100739116-100739117	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs550186142	chr5:100739127-100739128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs568771209	chr5:100739130-100739131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs370192308	chr5:100739154-100739155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs535477304	chr5:100739157-100739158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530019030	chr5:100739229-100739230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs34682358	chr5:100739265-100739266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565999406	chr5:100739281-100739282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187804950	chr5:100739297-100739298	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557498615	chr5:100739476-100739477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34912397	chr5:100739487-100739488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs386690534	chr5:100739488-100739489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs202151978	chr5:100739489-100739490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs35533032	chr5:100739491-100739492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111964881	chr5:100753850-100753851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs114532788	chr5:100753869-100753870	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs7444022	chr5:100753906-100753907	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs534610528	chr5:100753917-100753918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553054968	chr5:100753924-100753925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs405938	chr5:100753952-100753953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs1380397	chr5:100753975-100753976	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540011510	chr5:100754002-100754003	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs56224357	chr5:100754006-100754007	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs556921033	chr5:100754029-100754030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs543676802	chr5:100754032-100754033	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562055517	chr5:100754034-100754035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs573653244	chr5:100754067-100754068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530350706	chr5:100754079-100754080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs541075269	chr5:100754110-100754111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559789218	chr5:100754115-100754116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs80076365	chr5:100754140-100754141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551531930	chr5:100754178-100754179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181546672	chr5:100754220-100754221	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs368498873	chr5:100754234-100754235	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186199439	chr5:100754250-100754251	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs530740340	chr5:100754267-100754268	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs148005827	chr5:100754315-100754316	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs190719058	chr5:100754325-100754326	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs540287480	chr5:100754424-100754425	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs376217783	chr5:100754435-100754436	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs75660419	chr5:100754446-100754447	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100738800-100739600	Enhancers	Fetal Brain Male	brain
2	chr5:100753800-100754800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr5:100754000-100754200	Enhancers	Fetal Lung	lung
4	chr5:100754000-100754800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:100754200-100754600	Enhancers	Rectal Smooth Muscle	rectum
6	chr5:100754200-100754800	Enhancers	Duodenum Smooth Muscle	Duodenum
7	chr5:100754200-100754800	Enhancers	Fetal Kidney	kidney
8	chr5:100754200-100754800	Flanking Active TSS	Fetal Lung	lung
9	chr5:100754200-100755000	Enhancers	NHDF-Ad	bronchial
10	chr5:100754400-100754800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr5:100754400-100754800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:100754400-100754800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:100754400-100754800	Enhancers	Fetal Stomach	stomach
14	chr5:100754400-100755000	Enhancers	Muscle Satellite Cultured Cells	--
15	chr5:100754400-100755200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:100754800-100755200	Enhancers	Fetal Lung	lung
17	chr5:100754800-100758600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:100754800-100759400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:100755000-100759200	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr5:100755000-100759400	Weak transcription	NHDF-Ad	bronchial
21	chr5:100755200-100760400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr5:100758200-100758800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:100758600-100760400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr5:100758600-100760800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:100758800-100759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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