Variant report

Variant	nsv882456
Chromosome Location	chr5:99559569-99606651
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: 769 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:769 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1504533	chr5:99559569-99559570	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs535305263	chr5:99559675-99559676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs188905856	chr5:99559697-99559698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17134522	chr5:99559700-99559701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs545127377	chr5:99559786-99559787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs563232534	chr5:99559806-99559807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114439244	chr5:99559876-99559877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs114685029	chr5:99560003-99560004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs560714224	chr5:99560042-99560043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs372231532	chr5:99560066-99560067	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145529121	chr5:99560067-99560068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138138778	chr5:99560083-99560084	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs546538255	chr5:99560133-99560134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559740159	chr5:99560139-99560140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs181606601	chr5:99560143-99560144	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs12652540	chr5:99560156-99560157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551881463	chr5:99560232-99560233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs533398917	chr5:99560242-99560243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs570151165	chr5:99560252-99560253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537511579	chr5:99560283-99560284	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs149446157	chr5:99560287-99560288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs36075214	chr5:99560291-99560292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs141930680	chr5:99560308-99560309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs567810839	chr5:99560318-99560319	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115050853	chr5:99560344-99560345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs553379633	chr5:99560361-99560362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577611062	chr5:99560381-99560382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs544863345	chr5:99560396-99560397	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs530268185	chr5:99564820-99564821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs190098087	chr5:99564830-99564831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548819678	chr5:99564832-99564833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs561538835	chr5:99564913-99564914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs149603078	chr5:99564972-99564973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs2134901	chr5:99565010-99565011	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543458977	chr5:99565045-99565046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147911161	chr5:99565055-99565056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2134902	chr5:99565087-99565088	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs573684458	chr5:99565117-99565118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs373351470	chr5:99565134-99565135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs73149889	chr5:99565191-99565192	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559542794	chr5:99565214-99565215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192855519	chr5:99565223-99565224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539670326	chr5:99565239-99565240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114020093	chr5:99565264-99565265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs551287280	chr5:99565283-99565284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386690482	chr5:99565297-99565298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs2134904	chr5:99565298-99565299	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs147311834	chr5:99565320-99565321	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73149891	chr5:99565336-99565337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs17135255	chr5:99565438-99565439	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:86)

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

Chromatin state (count:63 , 50 per page) page: 1 2

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

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