Variant report

Variant	nsv968812
Chromosome Location	chr5:8328973-8337119
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

Extended variants
information (count: 352 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:352 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191885812	chr5:8328975-8328976	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115659352	chr5:8328976-8328977	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200211466	chr5:8328980-8328981	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553976832	chr5:8329007-8329008	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs144591017	chr5:8329026-8329027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542893965	chr5:8329039-8329040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs563082221	chr5:8329044-8329045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs182318202	chr5:8329077-8329078	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186629087	chr5:8329084-8329085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545316733	chr5:8329088-8329089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs191876188	chr5:8329169-8329170	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs527301046	chr5:8329189-8329190	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182536631	chr5:8329200-8329201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs116817774	chr5:8329222-8329223	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114580379	chr5:8329243-8329244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs372530257	chr5:8329244-8329245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs549735629	chr5:8329294-8329295	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569853206	chr5:8329315-8329316	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs16880385	chr5:8329323-8329324	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs552508393	chr5:8329326-8329327	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565932701	chr5:8329327-8329328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs534232439	chr5:8329410-8329411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554127129	chr5:8329419-8329420	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs534578050	chr5:8329423-8329424	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs536729429	chr5:8329441-8329442	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574615529	chr5:8329506-8329507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs556356125	chr5:8329520-8329521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576247800	chr5:8329521-8329522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs545158791	chr5:8329522-8329523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565243601	chr5:8329524-8329525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs572406068	chr5:8329539-8329540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34284766	chr5:8329553-8329554	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs187822888	chr5:8329558-8329559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560914427	chr5:8329607-8329608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529627969	chr5:8329662-8329663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs11134310	chr5:8329663-8329664	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs527637675	chr5:8329675-8329676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12233956	chr5:8329707-8329708	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs532348966	chr5:8329708-8329709	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12234050	chr5:8329722-8329723	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs193171179	chr5:8329743-8329744	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145463751	chr5:8329749-8329750	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs11134311	chr5:8329752-8329753	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs547502594	chr5:8329774-8329775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145790693	chr5:8329789-8329790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373862603	chr5:8329793-8329794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577434482	chr5:8329867-8329868	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147690572	chr5:8329885-8329886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs567675295	chr5:8329892-8329893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs185064391	chr5:8329895-8329896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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

Chromatin state (count:26 , 50 per page) page: 1

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

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