Variant report

Variant	nsv599173
Chromosome Location	chr5:99779559-99828301
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:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:99814517..99815454-chr5:100725734..100726727,3	MCF-7	breast:
2	chr5:99814495..99815041-chr5:100726099..100726630,2	MCF-7	breast:
3	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:
4	chr5:99813306..99815252-chr5:99818447..99820144,2	K562	blood:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-3	chr5:99786639-99786801	ENSG00000247877
2	lnc-ST8SIA4-3	chr5:99792761-99792828	ENSG00000247877
3	lnc-ST8SIA4-3	chr5:99785458-99786801	NONHSAT103002
4	lnc-ST8SIA4-3	chr5:99785458-99786801	ENSG00000247877

No data

Variant related genes	Relation type
EIF2B1	miRNA target sites
RLF	miRNA target sites

Extended variants
information (count: 290 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190552639	chr5:99782656-99782657	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs565735441	chr5:99782669-99782670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570590816	chr5:99782762-99782763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs142983147	chr5:99782789-99782790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556109415	chr5:99782848-99782849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs577488349	chr5:99782868-99782869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574494898	chr5:99782919-99782920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs78198105	chr5:99782928-99782929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs554157070	chr5:99782936-99782937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572743390	chr5:99782941-99782942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs554774282	chr5:99782956-99782957	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs576317622	chr5:99782972-99782973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546056333	chr5:99783054-99783055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564705671	chr5:99783062-99783063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs578083881	chr5:99783084-99783085	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs11739304	chr5:99783086-99783087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543566662	chr5:99783113-99783114	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs150604374	chr5:99783133-99783134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554119341	chr5:99783173-99783174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs528906385	chr5:99783182-99783183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs544116280	chr5:99783227-99783228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs78255825	chr5:99783237-99783238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536929265	chr5:99783274-99783275	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573990240	chr5:99783356-99783357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116731287	chr5:99783410-99783411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs533287558	chr5:99783414-99783415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs73777546	chr5:99783418-99783419	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs569535217	chr5:99783443-99783444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs537901556	chr5:99783511-99783512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs150816100	chr5:99783534-99783535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72276322	chr5:99783540-99783541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs372149520	chr5:99783561-99783562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs397998843	chr5:99783562-99783563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs5004126	chr5:99783563-99783564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs374778549	chr5:99783565-99783566	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs549872167	chr5:99783588-99783589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs369015519	chr5:99783590-99783591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568253681	chr5:99783633-99783634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1461632	chr5:99783675-99783676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs141230496	chr5:99783689-99783690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs72660729	chr5:99783690-99783691	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs554163977	chr5:99783735-99783736	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114384615	chr5:99783765-99783766	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141985253	chr5:99783781-99783782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs199538640	chr5:99783854-99783855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs113195284	chr5:99783856-99783857	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540142962	chr5:99783857-99783858	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558357749	chr5:99783882-99783883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374013162	chr5:99783938-99783939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74825480	chr5:99783952-99783953	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99782600-99786400	Enhancers	Fetal Lung	lung
2	chr5:99783800-99784400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr5:99783800-99784600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr5:99790200-99790800	Enhancers	HUVEC	blood vessel
5	chr5:99799600-99800000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:99800000-99800600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:99800000-99800600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:99800000-99800600	Enhancers	Osteobl	bone
9	chr5:99800600-99801000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:99805400-99805800	Enhancers	Dnd41	blood
11	chr5:99821000-99821800	Enhancers	Fetal Lung	lung
12	chr5:99824200-99824600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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