Variant report

Variant	nsv1024587
Chromosome Location	chr5:99515368-99616504
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	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:
2	chr5:99513584..99515520-chr5:99517082..99519600,2	MCF-7	breast:

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

Variant related genes	Relation type
GATAD2B	miRNA target sites

Extended variants
information (count: 1296 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1296 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147266267	chr5:99515371-99515372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs191874573	chr5:99515382-99515383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs183599861	chr5:99515401-99515402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs80133582	chr5:99515407-99515408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs114432968	chr5:99515420-99515421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs189597877	chr5:99515466-99515467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs576205661	chr5:99515525-99515526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs543579434	chr5:99515547-99515548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559816347	chr5:99515567-99515568	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs201212777	chr5:99515573-99515574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs570784042	chr5:99515574-99515575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs111286353	chr5:99515578-99515579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs555655508	chr5:99515599-99515600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs7724693	chr5:99515601-99515602	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs541023410	chr5:99515605-99515606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182014406	chr5:99515621-99515622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533082412	chr5:99515624-99515625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs75494931	chr5:99515645-99515646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs77086785	chr5:99515652-99515653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187565401	chr5:99515682-99515683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs73152812	chr5:99515695-99515696	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs386690477	chr5:99515730-99515731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs77198222	chr5:99515731-99515732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79793915	chr5:99515742-99515743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs114942836	chr5:99515750-99515751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547807947	chr5:99515762-99515763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140851143	chr5:99515767-99515768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs556160877	chr5:99515769-99515770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73152815	chr5:99515779-99515780	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs73152816	chr5:99515804-99515805	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs569778726	chr5:99515809-99515810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs529560485	chr5:99515810-99515811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551288542	chr5:99515859-99515860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs141729639	chr5:99515892-99515893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375835137	chr5:99515904-99515905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369991341	chr5:99515915-99515916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555493610	chr5:99515929-99515930	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs58178460	chr5:99515958-99515959	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs534991524	chr5:99515980-99515981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150574875	chr5:99516000-99516001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577589719	chr5:99516002-99516003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs79488745	chr5:99516023-99516024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs386690478	chr5:99516037-99516038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs114968488	chr5:99516039-99516040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542892552	chr5:99516080-99516081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs75371217	chr5:99516108-99516109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189857975	chr5:99516111-99516112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs546554660	chr5:99516115-99516116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60643262	chr5:99516116-99516117	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533186480	chr5:99516146-99516147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99512200-99517400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:99517600-99517800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr5:99521400-99523000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr5:99521600-99522800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:99521600-99523200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:99521800-99522400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:99521800-99522800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr5:99521800-99523000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr5:99521800-99523200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:99522000-99522400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr5:99542600-99543400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:99542800-99543200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:99543000-99543400	Active TSS	Fetal Lung	lung
14	chr5:99546200-99546600	Active TSS	Fetal Heart	heart
15	chr5:99558200-99559200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr5:99558200-99560400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:99564800-99567800	Weak transcription	Fetal Brain Male	brain
18	chr5:99567800-99568600	Enhancers	Fetal Brain Male	brain
19	chr5:99568000-99568600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:99568000-99569200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:99568200-99569000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:99568200-99569000	Enhancers	Fetal Brain Female	brain
23	chr5:99572200-99572600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr5:99572200-99572800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:99574200-99574400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:99578600-99579000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:99585400-99586000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr5:99585400-99586000	Enhancers	Fetal Brain Male	brain
29	chr5:99586600-99587200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:99587200-99588400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr5:99588400-99589000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr5:99596800-99597600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr5:99597000-99597400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr5:99597600-99600200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:99599600-99599800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:99599800-99600600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:99600200-99600400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:99600400-99600800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:99600600-99601600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:99600800-99602200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr5:99602200-99605800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:99604000-99605400	Enhancers	Primary hematopoietic stem cells short term culture	blood
43	chr5:99604200-99607200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:99604200-99607400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:99605400-99606000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:99605600-99605800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:99605600-99605800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr5:99605600-99605800	Enhancers	Fetal Lung	lung
49	chr5:99605600-99605800	Enhancers	HUVEC	blood vessel
50	chr5:99605800-99606000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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