Variant report

Variant	nsv1016891
Chromosome Location	chr5:115477740-115523778
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115477963..115480064-chr5:115480486..115482717,2	K562	blood:
2	chr5:115477963..115480064-chr5:115480486..115482717,2	K562	blood:
3	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
4	chr5:115467424..115470198-chr5:115480020..115482745,2	K562	blood:
5	chr5:115512590..115515778-chr5:115516651..115520258,3	MCF-7	breast:
6	chr5:115473230..115475072-chr5:115489118..115491844,2	MCF-7	breast:

Extended variants
information (count: 2527 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:2527 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10057513	chr5:115477740-115477741	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs113535553	chr5:115477766-115477767	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10057577	chr5:115477787-115477788	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs148508345	chr5:115477899-115477900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561233617	chr5:115477903-115477904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142959301	chr5:115477904-115477905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530250652	chr5:115477905-115477906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs151119999	chr5:115477952-115477953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139864093	chr5:115477963-115477964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs181514037	chr5:115477993-115477994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs555013216	chr5:115478003-115478004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551452323	chr5:115478009-115478010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs571183072	chr5:115478044-115478045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs533764663	chr5:115478121-115478122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs573604589	chr5:115478144-115478145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs554123579	chr5:115478165-115478166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563098532	chr5:115478171-115478172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536455724	chr5:115478173-115478174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144852054	chr5:115478199-115478200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs576177809	chr5:115478218-115478219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545221127	chr5:115478234-115478235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs79768546	chr5:115478239-115478240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs147796656	chr5:115478256-115478257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540995552	chr5:115478257-115478258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115017573	chr5:115478261-115478262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs141270957	chr5:115478275-115478276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550049746	chr5:115478297-115478298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs563774057	chr5:115478298-115478299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73253243	chr5:115478334-115478335	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs551220746	chr5:115478351-115478352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571287063	chr5:115478367-115478368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533790781	chr5:115478371-115478372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547370541	chr5:115478377-115478378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567575905	chr5:115478401-115478402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536591402	chr5:115478402-115478403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs186486781	chr5:115478405-115478406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373667289	chr5:115478416-115478417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576187700	chr5:115478422-115478423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191145393	chr5:115478465-115478466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs558801657	chr5:115478490-115478491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs373617766	chr5:115478493-115478494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183356100	chr5:115478509-115478510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs10051697	chr5:115478570-115478571	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs115858532	chr5:115478612-115478613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574486802	chr5:115478643-115478644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62385175	chr5:115478674-115478675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114385931	chr5:115478684-115478685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs71926968	chr5:115478754-115478755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs368563397	chr5:115478757-115478758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs71581223	chr5:115478758-115478759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
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
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	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
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Ependymoma	20639864	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115451000-115481200	Weak transcription	Left Ventricle	heart
2	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
3	chr5:115466200-115479600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr5:115466400-115479400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:115466400-115479400	Weak transcription	NHEK	skin
6	chr5:115466400-115479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:115466400-115479800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:115466400-115479800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:115466600-115479600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:115466600-115479600	Weak transcription	HSMM	muscle
11	chr5:115468200-115494400	Weak transcription	Primary T cells from cord blood	blood
12	chr5:115468400-115479000	Weak transcription	Adipose Nuclei	Adipose
13	chr5:115468600-115501400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr5:115469200-115481400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:115470600-115487400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:115471600-115480400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr5:115471600-115480600	Weak transcription	Dnd41	blood
18	chr5:115471600-115481000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr5:115471600-115481000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:115471600-115482400	Weak transcription	GM12878-XiMat	blood
21	chr5:115471600-115483400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
23	chr5:115472000-115480000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr5:115472000-115480200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr5:115472400-115480200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr5:115472800-115500200	Weak transcription	Primary B cells from cord blood	blood
27	chr5:115472800-115500400	Weak transcription	Monocytes-CD14+_RO01746	blood
28	chr5:115473000-115477800	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr5:115473600-115494800	Weak transcription	Fetal Kidney	kidney
30	chr5:115473600-115495200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr5:115473800-115480200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr5:115476200-115481400	Weak transcription	Fetal Thymus	thymus
33	chr5:115479400-115480000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:115479400-115480000	Enhancers	NHDF-Ad	bronchial
35	chr5:115479400-115480200	Enhancers	Muscle Satellite Cultured Cells	--
36	chr5:115479400-115480400	Enhancers	NHEK	skin
37	chr5:115479600-115480000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr5:115479600-115480000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:115479600-115480000	Enhancers	A549	lung
40	chr5:115479600-115480200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr5:115479600-115480200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:115479600-115480200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:115479600-115480200	Enhancers	HMEC	breast
44	chr5:115479600-115480200	Enhancers	HUVEC	blood vessel
45	chr5:115479600-115480200	Enhancers	Osteobl	bone
46	chr5:115479600-115480400	Enhancers	HSMM	muscle
47	chr5:115479800-115480000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:115479800-115480200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr5:115480000-115481200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr5:115480000-115481800	Enhancers	Primary T helper cells fromperipheralblood	blood

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