Variant report

Variant	nsv881317
Chromosome Location	chr5:8303435-8339949
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:8326714..8328797-chr5:8452465..8455003,2	K562	blood:
2	chr5:8339414..8342023-chr5:8348336..8350620,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FASTKD3-1	chr5:8337294-8337408	NONHSAT100283
2	lnc-FASTKD3-1	chr5:8337294-8337408	ENSG00000245729
3	lnc-FASTKD3-1	chr5:8333596-8334565	NONHSAT100283
4	lnc-FASTKD3-1	chr5:8333596-8334565	ENSG00000245729
5	lnc-FASTKD3-1	chr5:8334691-8334839	NONHSAT100283
6	lnc-FASTKD3-1	chr5:8334691-8334839	ENSG00000245729

No data

Variant related genes	Relation type
HIF1A	miRNA target sites
HHEX	miRNA target sites
IER3IP1	miRNA target sites

Extended variants
information (count: 592 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:592 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs59895483	chr5:8306417-8306418	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536041822	chr5:8306448-8306449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs548367016	chr5:8306463-8306464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11948935	chr5:8306464-8306465	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs145148587	chr5:8306478-8306479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530263614	chr5:8306479-8306480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537293090	chr5:8306495-8306496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs73045091	chr5:8306507-8306508	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs372569045	chr5:8306513-8306514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs556605588	chr5:8306523-8306524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73045094	chr5:8306524-8306525	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs568409557	chr5:8306557-8306558	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75117815	chr5:8306558-8306559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185768144	chr5:8306591-8306592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs528737532	chr5:8306623-8306624	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs548169696	chr5:8306643-8306644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567959720	chr5:8306671-8306672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553952170	chr5:8306731-8306732	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537189388	chr5:8306744-8306745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572469586	chr5:8306750-8306751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs550674947	chr5:8306754-8306755	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs570534539	chr5:8306774-8306775	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs139192511	chr5:8317035-8317036	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555854607	chr5:8317036-8317037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs149518420	chr5:8317050-8317051	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187491962	chr5:8317051-8317052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs78604302	chr5:8317072-8317073	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572342965	chr5:8317073-8317074	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376928188	chr5:8317084-8317085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs560497933	chr5:8317115-8317116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs1876636	chr5:8317120-8317121	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs12653839	chr5:8317136-8317137	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs4311401	chr5:8317207-8317208	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs371390675	chr5:8317209-8317210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs531667962	chr5:8317220-8317221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs552000121	chr5:8317228-8317229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs549949957	chr5:8317232-8317233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528024709	chr5:8317357-8317358	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs548244064	chr5:8326801-8326802	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs59475226	chr5:8326839-8326840	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs568586823	chr5:8326859-8326860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs112066925	chr5:8326865-8326866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs551192694	chr5:8326893-8326894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564856072	chr5:8326896-8326897	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs141775440	chr5:8326924-8326925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs73047350	chr5:8326925-8326926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146241828	chr5:8327013-8327014	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs138361209	chr5:8327017-8327018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535478427	chr5:8327027-8327028	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs115792632	chr5:8327053-8327054	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

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	22037309	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8306400-8306800	Enhancers	Spleen	Spleen
2	chr5:8317000-8317400	Enhancers	Fetal Brain Male	brain
3	chr5:8326800-8330200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:8327000-8327600	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr5:8327000-8328200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr5:8327200-8327600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr5:8327200-8328200	Enhancers	H9 Cell Line	embryonic stem cell
8	chr5:8327600-8328000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:8327800-8328000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:8327800-8328200	Enhancers	Primary hematopoietic stem cells	blood
11	chr5:8328000-8328200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr5:8328000-8328400	Enhancers	H1 Cell Line	embryonic stem cell
13	chr5:8328000-8328600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr5:8328200-8328800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr5:8328200-8329000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr5:8328200-8329400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr5:8328200-8333600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr5:8328800-8333000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:8329000-8329800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:8331800-8332000	Enhancers	Fetal Muscle Leg	muscle
21	chr5:8332200-8332400	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr5:8332600-8333600	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:8333000-8333400	Enhancers	Fetal Stomach	stomach
24	chr5:8333000-8334600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:8333400-8334000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:8333600-8334600	Enhancers	Primary hematopoietic stem cells	blood
27	chr5:8333600-8334600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr5:8333800-8334200	Enhancers	Brain Cingulate Gyrus	brain
29	chr5:8333800-8334600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:8334000-8334600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:8334000-8334600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr5:8334000-8334600	Enhancers	Fetal Muscle Leg	muscle
33	chr5:8334200-8334400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr5:8334200-8334600	Enhancers	Brain Hippocampus Middle	brain
35	chr5:8334400-8334600	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr5:8334600-8336000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:8334600-8340600	Weak transcription	Brain Hippocampus Middle	brain
38	chr5:8335200-8340200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:8336000-8337000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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