Variant report

Variant	nsv4955
Chromosome Location	chr5:108577946-108611852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19215988..19216797-chr5:108584709..108585530,2	HCT-116	colon:
2	chr5:108592899..108594623-chr5:108600465..108602761,2	K562	blood:
3	chr5:108588035..108590864-chr5:108591937..108595459,4	K562	blood:
4	chr5:108588035..108590864-chr5:108591937..108595459,4	K562	blood:
5	chr5:108592899..108594623-chr5:108600465..108602761,2	K562	blood:
6	chr5:108572770..108575562-chr5:108575824..108578340,3	K562	blood:

Variant related genes	Relation type
ENSG00000181035	chromatin interactions

Extended variants
information (count: 1304 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:1304 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192536907	chr5:108577972-108577973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs529602666	chr5:108577974-108577975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369704101	chr5:108578001-108578002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549382074	chr5:108578032-108578033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561857310	chr5:108578036-108578037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144840519	chr5:108578146-108578147	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs75800920	chr5:108578148-108578149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571404179	chr5:108578190-108578191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs572987483	chr5:108578226-108578227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs75213821	chr5:108578256-108578257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs536682889	chr5:108578282-108578283	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543953801	chr5:108578327-108578328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs148574632	chr5:108578340-108578341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs375805052	chr5:108578368-108578369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs201334097	chr5:108578419-108578420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6881141	chr5:108578459-108578460	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs567517439	chr5:108578497-108578498	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10515400	chr5:108578531-108578532	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs553283564	chr5:108578565-108578566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573108964	chr5:108578592-108578593	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545218365	chr5:108578628-108578629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs115332284	chr5:108578666-108578667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs182724555	chr5:108578673-108578674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs187360255	chr5:108578678-108578679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560959378	chr5:108578710-108578711	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574328513	chr5:108578735-108578736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs34775835	chr5:108578784-108578785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs527966891	chr5:108578850-108578851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs74815326	chr5:108578857-108578858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs559606749	chr5:108578866-108578867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs549299907	chr5:108578907-108578908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528707130	chr5:108578926-108578927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs551561598	chr5:108578931-108578932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs2416202	chr5:108578980-108578981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372952738	chr5:108579008-108579009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs199698032	chr5:108579015-108579016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565094983	chr5:108579016-108579017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs6864796	chr5:108579017-108579018	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs201172535	chr5:108579018-108579019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs377288557	chr5:108579055-108579056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147865869	chr5:108579087-108579088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs200929806	chr5:108579088-108579089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs202066703	chr5:108579089-108579090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs573774857	chr5:108579099-108579100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150662063	chr5:108579105-108579106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184832093	chr5:108579121-108579122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs140097270	chr5:108579123-108579124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143687225	chr5:108579126-108579127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189714112	chr5:108579155-108579156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs544179660	chr5:108579200-108579201	Weak transcription Enhancers	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	18451855	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108573200-108580800	Weak transcription	Aorta	Aorta
2	chr5:108573200-108582200	Weak transcription	Liver	Liver
3	chr5:108575600-108581800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:108577200-108579400	Enhancers	Dnd41	blood
5	chr5:108577800-108582200	Weak transcription	Pancreas	Pancrea
6	chr5:108578200-108578600	Enhancers	Primary T cells from cord blood	blood
7	chr5:108578400-108579400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:108580800-108581400	ZNF genes & repeats	Aorta	Aorta
9	chr5:108582200-108582600	Active TSS	Colon Smooth Muscle	Colon
10	chr5:108582200-108582600	ZNF genes & repeats	Pancreas	Pancrea
11	chr5:108582200-108582800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
12	chr5:108582200-108582800	ZNF genes & repeats	Liver	Liver
13	chr5:108582400-108583000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
14	chr5:108582800-108584400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr5:108583000-108583600	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr5:108583400-108584600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr5:108583400-108584800	Enhancers	GM12878-XiMat	blood
18	chr5:108583600-108584200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr5:108583600-108584200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:108583600-108584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:108583600-108584400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr5:108583800-108584400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr5:108584200-108585000	Enhancers	Placenta	Placenta
24	chr5:108584200-108585200	Enhancers	Fetal Muscle Leg	muscle
25	chr5:108585000-108586400	Weak transcription	Placenta	Placenta
26	chr5:108585200-108589600	Weak transcription	Fetal Muscle Leg	muscle
27	chr5:108586000-108586200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:108586000-108606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr5:108586200-108586600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr5:108586400-108586600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
31	chr5:108586400-108586800	Enhancers	Placenta	Placenta
32	chr5:108586600-108588200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr5:108586800-108589800	Weak transcription	Placenta	Placenta
34	chr5:108588200-108588400	Enhancers	Spleen	Spleen
35	chr5:108588200-108588800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:108588200-108589000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr5:108588400-108588600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:108588400-108589800	Enhancers	Ovary	ovary
39	chr5:108588600-108589800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:108588800-108594000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr5:108589000-108589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr5:108589000-108590200	Enhancers	Right Atrium	heart
43	chr5:108589000-108592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr5:108589200-108589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:108589200-108590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:108589400-108589800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr5:108589600-108590200	Enhancers	Aorta	Aorta
48	chr5:108589600-108590200	Enhancers	Fetal Muscle Leg	muscle
49	chr5:108589600-108592600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr5:108589800-108590200	Enhancers	Placenta	Placenta

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