Variant report

Variant	nsv5075
Chromosome Location	chr5:152644472-152679211
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 152 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:152 , 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	rs534627755	chr5:152644519-152644520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538593317	chr5:152644638-152644639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1350900	chr5:152644679-152644680	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs571266077	chr5:152644686-152644687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs538595967	chr5:152644687-152644688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs138344008	chr5:152644716-152644717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs143838350	chr5:152644752-152644753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs537677614	chr5:152644807-152644808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371437941	chr5:152644812-152644813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142945098	chr5:152644831-152644832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555668636	chr5:152644839-152644840	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs373378617	chr5:152644840-152644841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181408076	chr5:152644890-152644891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559574088	chr5:152644951-152644952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186551191	chr5:152644962-152644963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577626510	chr5:152645045-152645046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544994172	chr5:152645102-152645103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147261817	chr5:152645122-152645123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs530888440	chr5:152645157-152645158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192041327	chr5:152645158-152645159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560948015	chr5:152645165-152645166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs117182254	chr5:152645171-152645172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs982494	chr5:152645213-152645214	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs570711000	chr5:152645275-152645276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538683202	chr5:152645306-152645307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs550570358	chr5:152645349-152645350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552473563	chr5:152645374-152645375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2927172	chr5:152645390-152645391	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2973149	chr5:152645408-152645409	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs535982454	chr5:152645421-152645422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73274195	chr5:152645440-152645441	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs574157091	chr5:152645492-152645493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534850199	chr5:152645493-152645494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs148748379	chr5:152645509-152645510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77162183	chr5:152645526-152645527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545028649	chr5:152645527-152645528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141508030	chr5:152645552-152645553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575566734	chr5:152645594-152645595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs542757005	chr5:152645612-152645613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183315694	chr5:152645690-152645691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs563160823	chr5:152645697-152645698	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528333498	chr5:152645759-152645760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs2964817	chr5:152645765-152645766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs369871868	chr5:152645834-152645835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565203685	chr5:152645847-152645848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186524659	chr5:152645849-152645850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550862109	chr5:152645885-152645886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373490903	chr5:152645912-152645913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568785671	chr5:152645974-152645975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191119611	chr5:152646006-152646007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Crohn''s disease	20106866	CNVD
Breast cancer	20409316	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Deafness	19353646	CNVD
Developmental delay	19353646	CNVD
dysmorphism	19353646	CNVD
feeding difficulties	19353646	CNVD
strabismus	19353646	CNVD
Gastric adenocarcinoma	19115996	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:152643200-152647000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:152646400-152647000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr5:152646600-152648400	Enhancers	NHEK	skin
4	chr5:152646800-152647000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:152646800-152648400	Enhancers	HMEC	breast
6	chr5:152647000-152648000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:152647000-152648200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:152648000-152648600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:152679000-152679400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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