Variant report

Variant	nsv980958
Chromosome Location	chr5:99841462-99849137
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99843783..99845513-chr5:99845985..99848114,2	MCF-7	breast:
2	chr5:99840638..99843580-chr5:99851710..99854340,2	MCF-7	breast:
3	chr5:99843783..99845513-chr5:99845985..99848114,2	MCF-7	breast:

Extended variants
information (count: 200 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:200 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542998312	chr5:99841698-99841699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs561523520	chr5:99841700-99841701	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs138848711	chr5:99841789-99841790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs142065599	chr5:99841841-99841842	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs571389338	chr5:99841845-99841846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374405839	chr5:99841848-99841849	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs34047295	chr5:99841864-99841865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs144728513	chr5:99841897-99841898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs138680675	chr5:99841908-99841909	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs3907112	chr5:99841999-99842000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141339036	chr5:99842009-99842010	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs548193774	chr5:99842059-99842060	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150810155	chr5:99842098-99842099	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs539159458	chr5:99842169-99842170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190456715	chr5:99842190-99842191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs181707233	chr5:99842191-99842192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577698841	chr5:99842316-99842317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs185184232	chr5:99842320-99842321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576446241	chr5:99842351-99842352	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34830134	chr5:99842352-99842353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78115227	chr5:99842390-99842391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs575590307	chr5:99842439-99842440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs371318486	chr5:99842484-99842485	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543268439	chr5:99842566-99842567	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs139011761	chr5:99842569-99842570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs149466176	chr5:99842572-99842573	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188387443	chr5:99842578-99842579	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565505672	chr5:99842610-99842611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs532240126	chr5:99842660-99842661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs550733654	chr5:99842680-99842681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181170439	chr5:99842683-99842684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs185660681	chr5:99842684-99842685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548436703	chr5:99842686-99842687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs566667429	chr5:99842842-99842843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189649539	chr5:99842848-99842849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558876439	chr5:99842875-99842876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs551933022	chr5:99842879-99842880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570361343	chr5:99842936-99842937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs180913283	chr5:99842976-99842977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs561423292	chr5:99842989-99842990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557184201	chr5:99843026-99843027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs543540430	chr5:99843059-99843060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62389120	chr5:99843109-99843110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs371239120	chr5:99843115-99843116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187260818	chr5:99843123-99843124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs560583912	chr5:99843126-99843127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536274211	chr5:99843139-99843140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555211826	chr5:99843167-99843168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565124053	chr5:99843184-99843185	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374748781	chr5:99843189-99843190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99838200-99841800	Weak transcription	HSMM	muscle
2	chr5:99841200-99842200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:99841200-99842600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:99841200-99842600	Enhancers	Hela-S3	cervix
5	chr5:99841200-99842600	Enhancers	NHEK	skin
6	chr5:99841400-99842400	Enhancers	Fetal Brain Male	brain
7	chr5:99841400-99842400	Enhancers	HMEC	breast
8	chr5:99841400-99842600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr5:99841400-99842600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr5:99841400-99842600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr5:99841600-99842200	Enhancers	Osteobl	bone
12	chr5:99841600-99842400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:99841600-99842600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:99841800-99842200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:99841800-99842200	Enhancers	HSMMtube	muscle
16	chr5:99841800-99842200	Enhancers	NH-A	brain
17	chr5:99841800-99842400	Enhancers	Adipose Nuclei	Adipose
18	chr5:99841800-99842400	Enhancers	HSMM	muscle
19	chr5:99841800-99842400	Enhancers	HUVEC	blood vessel
20	chr5:99842000-99842400	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr5:99842000-99842400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:99842000-99842400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr5:99842000-99842400	Enhancers	A549	lung
24	chr5:99842600-99846800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:99842600-99846800	Weak transcription	NHEK	skin
26	chr5:99846800-99847400	Enhancers	NHEK	skin

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