Variant report

Variant	nsv1026907
Chromosome Location	chr5:8929514-8958258
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:8948042..8950890-chr5:8955170..8958329,3	K562	blood:
2	chr5:8951345..8954087-chr5:8958515..8960198,2	K562	blood:
3	chr5:8948042..8950890-chr5:8955170..8958329,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTRR-18	chr5:8934000-8934632	ucscGeneNc_uc003jej_2

Extended variants
information (count: 1239 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:1239 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551997642	chr5:8929547-8929548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565810930	chr5:8929567-8929568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577246668	chr5:8929589-8929590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs58726930	chr5:8929608-8929609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs116598534	chr5:8929687-8929688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs13160595	chr5:8929697-8929698	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs183657951	chr5:8929729-8929730	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188376806	chr5:8929730-8929731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570660464	chr5:8929754-8929755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144812446	chr5:8929777-8929778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572546536	chr5:8929818-8929819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534785399	chr5:8929853-8929854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs554560169	chr5:8929925-8929926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574466006	chr5:8930010-8930011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs557325192	chr5:8930018-8930019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs79628923	chr5:8930029-8930030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs543710426	chr5:8930035-8930036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs13361583	chr5:8930057-8930058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs146719152	chr5:8930079-8930080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs13362073	chr5:8930081-8930082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs549062118	chr5:8930084-8930085	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74516810	chr5:8930085-8930086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112994199	chr5:8930093-8930094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs181778919	chr5:8930121-8930122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs185600153	chr5:8930151-8930152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561687067	chr5:8930189-8930190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs190809719	chr5:8930223-8930224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550900940	chr5:8930234-8930235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570800278	chr5:8930274-8930275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145707379	chr5:8930278-8930279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6873594	chr5:8930306-8930307	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs71611352	chr5:8930380-8930381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570982631	chr5:8930381-8930382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528171596	chr5:8930406-8930407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148788104	chr5:8930412-8930413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201580479	chr5:8930415-8930416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528777615	chr5:8930417-8930418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566533677	chr5:8930418-8930419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368904379	chr5:8930419-8930420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200066084	chr5:8930420-8930421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147580770	chr5:8930429-8930430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs187088599	chr5:8930430-8930431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs6894834	chr5:8930468-8930469	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs138187334	chr5:8930497-8930498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537089349	chr5:8930526-8930527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs190046883	chr5:8930535-8930536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs6872768	chr5:8930556-8930557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs6872900	chr5:8930567-8930568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs149563594	chr5:8930619-8930620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76579831	chr5:8930646-8930647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8912800-8935600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:8933800-8934600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:8934200-8934800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:8934600-8935000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:8935600-8936600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:8935600-8936600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:8935800-8936200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:8935800-8936400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:8935800-8936400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:8936000-8936400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:8936200-8936400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:8936200-8936600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:8936400-8936600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:8936400-8937600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:8936600-8941000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:8937400-8937800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr5:8937600-8937800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:8937600-8938000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr5:8941000-8941800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:8941400-8941800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:8941800-8943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr5:8943400-8943800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:8943400-8944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:8943400-8944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:8943400-8944400	Enhancers	Muscle Satellite Cultured Cells	--
26	chr5:8943400-8944400	Enhancers	Osteobl	bone
27	chr5:8943400-8944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:8943400-8944600	Enhancers	NHDF-Ad	bronchial
29	chr5:8943400-8944800	Enhancers	NHLF	lung
30	chr5:8943600-8944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:8943600-8944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr5:8943600-8944000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:8943600-8944000	Enhancers	HMEC	breast
34	chr5:8943600-8944400	Enhancers	NH-A	brain
35	chr5:8943600-8944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:8943800-8944400	Enhancers	Fetal Lung	lung
37	chr5:8944000-8980400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:8944400-8949800	Weak transcription	Fetal Lung	lung
39	chr5:8946000-8946400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:8949400-8951200	Enhancers	GM12878-XiMat	blood
41	chr5:8949400-8951600	Enhancers	Dnd41	blood
42	chr5:8949800-8951000	Enhancers	Fetal Lung	lung
43	chr5:8950000-8950400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:8950400-8953800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:8951200-8952400	Weak transcription	GM12878-XiMat	blood
46	chr5:8951600-8954600	Flanking Active TSS	Dnd41	blood
47	chr5:8952600-8952800	Enhancers	GM12878-XiMat	blood
48	chr5:8952600-8953600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr5:8952800-8953400	Enhancers	Primary hematopoietic stem cells	blood
50	chr5:8953200-8954400	Enhancers	NHLF	lung

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