Variant report

Variant	nsv964753
Chromosome Location	chr5:8504477-8507892
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:8507041..8510012-chr5:8511674..8514146,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FASTKD3-1	chr5:8505336-8505393	ucscGeneNc_uc003jeh_1

Extended variants
information (count: 143 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:143 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554772768	chr5:8504512-8504513	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs149770735	chr5:8504542-8504543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs555407534	chr5:8504557-8504558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs6892211	chr5:8504567-8504568	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs72735809	chr5:8504678-8504679	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145867405	chr5:8504699-8504700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs545524668	chr5:8504707-8504708	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs386685267	chr5:8504746-8504747	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs375977	chr5:8504747-8504748	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs72491382	chr5:8504752-8504753	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548343162	chr5:8504754-8504755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578193965	chr5:8504861-8504862	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553656935	chr5:8504933-8504934	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs561885614	chr5:8504943-8504944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs139737556	chr5:8504952-8504953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1394642	chr5:8505000-8505001	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs560209995	chr5:8505014-8505015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570210967	chr5:8505034-8505035	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374589455	chr5:8505050-8505051	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191175736	chr5:8505069-8505070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs552324626	chr5:8505124-8505125	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144418359	chr5:8505165-8505166	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs535031792	chr5:8505192-8505193	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs367780592	chr5:8505219-8505220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181531406	chr5:8505243-8505244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568328507	chr5:8505265-8505266	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16880716	chr5:8505266-8505267	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556633048	chr5:8505273-8505274	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs381112	chr5:8505291-8505292	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371133089	chr5:8505347-8505348	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs545765572	chr5:8505348-8505349	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs562936866	chr5:8505371-8505372	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs552721102	chr5:8505372-8505373	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs116110600	chr5:8505451-8505452	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs12655695	chr5:8505492-8505493	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561824870	chr5:8505495-8505496	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs530722173	chr5:8505512-8505513	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs391404	chr5:8505522-8505523	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs563758168	chr5:8505528-8505529	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs532527083	chr5:8505533-8505534	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs549702824	chr5:8505549-8505550	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116753347	chr5:8505562-8505563	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs391363	chr5:8505568-8505569	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs528746222	chr5:8505574-8505575	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs35792529	chr5:8505575-8505576	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs187052814	chr5:8505578-8505579	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs532279800	chr5:8505616-8505617	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs568458849	chr5:8505628-8505629	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs561205886	chr5:8505650-8505651	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs528370941	chr5:8505651-8505652	Enhancers Weak transcription Flanking Active TSS	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:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8503400-8517400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:8504000-8505400	Enhancers	Dnd41	blood
3	chr5:8504200-8504800	Enhancers	Fetal Intestine Small	intestine
4	chr5:8504200-8506600	Enhancers	Primary hematopoietic stem cells	blood
5	chr5:8504400-8505200	Enhancers	Fetal Intestine Large	intestine
6	chr5:8504400-8506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:8504600-8505600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr5:8504800-8506200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:8505000-8505800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr5:8505000-8506000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr5:8505400-8506000	Flanking Active TSS	Dnd41	blood
12	chr5:8506000-8506400	Enhancers	Dnd41	blood

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