Variant report

Variant	nsv1030808
Chromosome Location	chr5:99112735-99191677
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:99089940..99092003-chr5:99110491..99113397,2	MCF-7	breast:
2	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:
3	chr5:99141699..99143792-chr5:99151090..99154054,2	MCF-7	breast:

Extended variants
information (count: 536 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:536 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562387648	chr5:99129611-99129612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142332065	chr5:99129613-99129614	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs563838262	chr5:99129668-99129669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs532071201	chr5:99129701-99129702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs574092630	chr5:99129715-99129716	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541034819	chr5:99129734-99129735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs189623536	chr5:99129757-99129758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531303055	chr5:99129779-99129780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545738124	chr5:99129790-99129791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150205807	chr5:99129792-99129793	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78890102	chr5:99129922-99129923	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569865578	chr5:99129950-99129951	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs138796684	chr5:99129974-99129975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs149379935	chr5:99130067-99130068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34370814	chr5:99130157-99130158	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs143107585	chr5:99130235-99130236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115892852	chr5:99130240-99130241	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs553755493	chr5:99130309-99130310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs565835718	chr5:99130313-99130314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs543182882	chr5:99130329-99130330	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558054887	chr5:99130360-99130361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549533070	chr5:99130362-99130363	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs576550385	chr5:99130372-99130373	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs543667815	chr5:99130475-99130476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556053245	chr5:99130558-99130559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs1161258	chr5:99130562-99130563	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564927145	chr5:99130563-99130564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541024716	chr5:99130711-99130712	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs559430236	chr5:99130786-99130787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569128521	chr5:99130837-99130838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs545117548	chr5:99130847-99130848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563261969	chr5:99130900-99130901	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs530697570	chr5:99130901-99130902	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138694633	chr5:99130905-99130906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547132904	chr5:99130906-99130907	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567179281	chr5:99130929-99130930	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs185370874	chr5:99130969-99130970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565542202	chr5:99130977-99130978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs373311645	chr5:99131040-99131041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539470113	chr5:99131067-99131068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558194626	chr5:99131124-99131125	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs189483190	chr5:99131150-99131151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs577720429	chr5:99131159-99131160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200445679	chr5:99131163-99131164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs372797871	chr5:99131237-99131238	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537602064	chr5:99131314-99131315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556043020	chr5:99131336-99131337	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180728603	chr5:99131339-99131340	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs6421854	chr5:99131340-99131341	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs79463379	chr5:99131342-99131343	Enhancers	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
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:99129600-99130200	Enhancers	HUVEC	blood vessel
2	chr5:99130000-99131800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:99130200-99131800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:99130400-99131000	Enhancers	Pancreatic Islets	Pancreatic Islet
5	chr5:99150000-99150400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:99153600-99159400	Weak transcription	Pancreas	Pancrea
7	chr5:99159400-99159600	ZNF genes & repeats	Pancreas	Pancrea
8	chr5:99161000-99161400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr5:99161400-99161800	Enhancers	HUVEC	blood vessel
10	chr5:99173400-99173800	Enhancers	Fetal Brain Male	brain
11	chr5:99178600-99178800	Enhancers	Pancreas	Pancrea
12	chr5:99178800-99179000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr5:99179000-99179200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:99179200-99181400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr5:99191600-99191800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
16	chr5:99191600-99192000	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr5:99191600-99192200	Active TSS	H9 Cell Line	embryonic stem cell

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