Variant report

Variant	nsv432790
Chromosome Location	chr5:99555492-99644635
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ST8SIA4-5	chr5:99583911-99584015	NONHSAT102996
2	lnc-ST8SIA4-5	chr5:99582989-99583463	NONHSAT102996

Variant related genes	Relation type
GATAD2B	miRNA target sites

Extended variants
information (count: 1315 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1315 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544083112	chr5:99558213-99558214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561676924	chr5:99558220-99558221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs528889477	chr5:99558230-99558231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs192803826	chr5:99558243-99558244	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541177835	chr5:99558292-99558293	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184435247	chr5:99558336-99558337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs553375023	chr5:99558346-99558347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs533015879	chr5:99558353-99558354	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187716053	chr5:99558359-99558360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs569721548	chr5:99558441-99558442	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs530715148	chr5:99558568-99558569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73776441	chr5:99558569-99558570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs374559582	chr5:99558617-99558618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs568156649	chr5:99558646-99558647	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566360549	chr5:99558701-99558702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192456356	chr5:99558783-99558784	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs553875762	chr5:99558791-99558792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs17134371	chr5:99558792-99558793	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs114095620	chr5:99558816-99558817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs79230065	chr5:99558843-99558844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs114510225	chr5:99558868-99558869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115254697	chr5:99558914-99558915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs556095977	chr5:99558925-99558926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs573711250	chr5:99558936-99558937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541014343	chr5:99558955-99558956	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs559054763	chr5:99559030-99559031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367559309	chr5:99559039-99559040	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533067895	chr5:99559074-99559075	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370219729	chr5:99559099-99559100	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs140523066	chr5:99559112-99559113	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs201503046	chr5:99559159-99559160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563504274	chr5:99559162-99559163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530607206	chr5:99559165-99559166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs76319935	chr5:99559166-99559167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560827131	chr5:99559171-99559172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529282126	chr5:99559178-99559179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73776442	chr5:99559198-99559199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs555398025	chr5:99559228-99559229	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs73776444	chr5:99559258-99559259	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs79409169	chr5:99559263-99559264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs551575423	chr5:99559317-99559318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374591042	chr5:99559471-99559472	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138705190	chr5:99559478-99559479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs141827104	chr5:99559521-99559522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs573717656	chr5:99559537-99559538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs369975217	chr5:99559561-99559562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs1504533	chr5:99559569-99559570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs535305263	chr5:99559675-99559676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188905856	chr5:99559697-99559698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs17134522	chr5:99559700-99559701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99558200-99559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99558200-99560400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:99564800-99567800	Weak transcription	Fetal Brain Male	brain
4	chr5:99567800-99568600	Enhancers	Fetal Brain Male	brain
5	chr5:99568000-99568600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:99568000-99569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:99568200-99569000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:99568200-99569000	Enhancers	Fetal Brain Female	brain
9	chr5:99572200-99572600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr5:99572200-99572800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr5:99574200-99574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:99578600-99579000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:99585400-99586000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr5:99585400-99586000	Enhancers	Fetal Brain Male	brain
15	chr5:99586600-99587200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr5:99587200-99588400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr5:99588400-99589000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr5:99596800-99597600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr5:99597000-99597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:99597600-99600200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr5:99599600-99599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr5:99599800-99600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:99600200-99600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr5:99600400-99600800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr5:99600600-99601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr5:99600800-99602200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr5:99602200-99605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:99604000-99605400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:99604200-99607200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr5:99604200-99607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:99605400-99606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr5:99605600-99605800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:99605600-99605800	Enhancers	Muscle Satellite Cultured Cells	--
34	chr5:99605600-99605800	Enhancers	Fetal Lung	lung
35	chr5:99605600-99605800	Enhancers	HUVEC	blood vessel
36	chr5:99605800-99606000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:99605800-99606000	Enhancers	NH-A	brain
38	chr5:99605800-99606200	Flanking Active TSS	Fetal Lung	lung
39	chr5:99605800-99606400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr5:99605800-99606400	Flanking Active TSS	HUVEC	blood vessel
41	chr5:99605800-99606600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr5:99605800-99606600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr5:99605800-99606600	Enhancers	HSMMtube	muscle
44	chr5:99605800-99606600	Enhancers	NHEK	skin
45	chr5:99605800-99606800	Enhancers	Primary hematopoietic stem cells	blood
46	chr5:99605800-99606800	Enhancers	Fetal Brain Male	brain
47	chr5:99605800-99606800	Enhancers	Fetal Kidney	kidney
48	chr5:99606000-99606400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:99606000-99606400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:99606000-99606400	Flanking Active TSS	NH-A	brain

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