Variant report

Variant	nsv1032034
Chromosome Location	chr5:105975184-106104695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:106091111..106094042-chr5:106098260..106100095,2	K562	blood:
2	chr5:106091111..106094042-chr5:106098260..106100095,2	K562	blood:
3	chr5:105982713..105983578-chr7:143652953..143653920,2	MCF-7	breast:
4	chr5:105971307..105972912-chr5:105974720..105977019,2	MCF-7	breast:

Extended variants
information (count: 1215 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1215 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567476597	chr5:105983812-105983813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143832834	chr5:105983814-105983815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs550386469	chr5:105983830-105983831	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189940973	chr5:105983859-105983860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570129499	chr5:105983867-105983868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs539623327	chr5:105983876-105983877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs141986799	chr5:105983877-105983878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs141967267	chr5:105983892-105983893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572818223	chr5:105983959-105983960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571714633	chr5:105983965-105983966	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs369389669	chr5:105983995-105983996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534270973	chr5:105983998-105983999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117926069	chr5:105984023-105984024	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs181619497	chr5:105984024-105984025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539827609	chr5:105984057-105984058	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186800656	chr5:105984096-105984097	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145113788	chr5:105984128-105984129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112669365	chr5:105984130-105984131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34594921	chr5:105984132-105984133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs183367568	chr5:105984211-105984212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184996438	chr5:105984244-105984245	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs75914403	chr5:105984255-105984256	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541403812	chr5:105984273-105984274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs564461117	chr5:105984291-105984292	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573390685	chr5:105984310-105984311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs543862620	chr5:105984316-105984317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs550005638	chr5:105984376-105984377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs570273017	chr5:105984401-105984402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs529425358	chr5:105984402-105984403	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs189849137	chr5:105984404-105984405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs562605066	chr5:105984423-105984424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534330532	chr5:105984470-105984471	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557365125	chr5:105984474-105984475	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147776830	chr5:105984502-105984503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs34119666	chr5:105984503-105984504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201180191	chr5:105984513-105984514	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs397881534	chr5:105984515-105984516	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs570887893	chr5:105984521-105984522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138841498	chr5:105984527-105984528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs556741243	chr5:105984536-105984537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75669785	chr5:105984543-105984544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs528018203	chr5:105984549-105984550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs142063759	chr5:105984574-105984575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs146292372	chr5:105984588-105984589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182966225	chr5:105984592-105984593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs188455583	chr5:105984609-105984610	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549397885	chr5:105984621-105984622	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530100875	chr5:105984658-105984659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs533358616	chr5:105984668-105984669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543904308	chr5:105984745-105984746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	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
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:105983800-105986400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:105984000-105984600	Enhancers	Brain Substantia Nigra	brain
3	chr5:105984200-105985400	Enhancers	Brain Angular Gyrus	brain
4	chr5:105984200-105986200	Enhancers	Brain Hippocampus Middle	brain
5	chr5:105984400-105984600	Enhancers	Brain Anterior Caudate	brain
6	chr5:105984400-105985000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:105984400-105986400	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:105984600-105985400	Weak transcription	Brain Anterior Caudate	brain
9	chr5:105984600-105985400	Weak transcription	Brain Substantia Nigra	brain
10	chr5:105985400-105985600	Enhancers	Brain Substantia Nigra	brain
11	chr5:105985400-105986400	Weak transcription	Brain Angular Gyrus	brain
12	chr5:105985400-105986600	Enhancers	Brain Anterior Caudate	brain
13	chr5:105985600-105986400	Weak transcription	Brain Substantia Nigra	brain
14	chr5:105986400-105986600	Enhancers	Brain Angular Gyrus	brain
15	chr5:105986400-105986600	Enhancers	Brain Substantia Nigra	brain
16	chr5:105990000-105990400	Active TSS	Liver	Liver
17	chr5:105992200-105992600	Enhancers	Brain Substantia Nigra	brain
18	chr5:105992200-105992800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:105992200-105993000	Enhancers	Brain Cingulate Gyrus	brain
20	chr5:105993600-105994000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:105993600-105994600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr5:105994800-105995200	Enhancers	HUVEC	blood vessel
23	chr5:105995000-105995800	Enhancers	Adipose Nuclei	Adipose
24	chr5:105995600-105997000	Enhancers	Fetal Lung	lung
25	chr5:105995800-105997400	Weak transcription	Adipose Nuclei	Adipose
26	chr5:105996600-105997200	Enhancers	Ovary	ovary
27	chr5:105997000-105997400	Weak transcription	Fetal Lung	lung
28	chr5:105997400-105997800	Enhancers	Adipose Nuclei	Adipose
29	chr5:105997400-105998200	Enhancers	Fetal Lung	lung
30	chr5:106011400-106011600	Enhancers	Fetal Lung	lung
31	chr5:106011600-106016200	Weak transcription	Fetal Lung	lung
32	chr5:106015800-106016000	Enhancers	Ovary	ovary
33	chr5:106015800-106016400	Active TSS	Adipose Nuclei	Adipose
34	chr5:106016000-106016200	Active TSS	Muscle Satellite Cultured Cells	--
35	chr5:106016000-106016200	Active TSS	GM12878-XiMat	blood
36	chr5:106016000-106016200	Enhancers	HUVEC	blood vessel
37	chr5:106016000-106016400	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:106016000-106016400	Active TSS	Primary hematopoietic stem cells	blood
39	chr5:106016000-106016400	Active TSS	Hela-S3	cervix
40	chr5:106016000-106016600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr5:106016000-106016600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr5:106016000-106016600	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:106016000-106016600	Active TSS	Aorta	Aorta
44	chr5:106016000-106016600	Active TSS	Fetal Stomach	stomach
45	chr5:106016000-106016600	Active TSS	Ovary	ovary
46	chr5:106016000-106016600	Active TSS	A549	lung
47	chr5:106016200-106016600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:106016200-106016600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr5:106016200-106016600	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr5:106016200-106016600	Active TSS	Fetal Lung	lung

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