Variant report

Variant	nsv508375
Chromosome Location	chr5:108587628-108624046
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:108588035..108590864-chr5:108591937..108595459,4	K562	blood:
2	chr5:108592899..108594623-chr5:108600465..108602761,2	K562	blood:
3	chr5:108592899..108594623-chr5:108600465..108602761,2	K562	blood:
4	chr5:108588035..108590864-chr5:108591937..108595459,4	K562	blood:

Extended variants
information (count: 1366 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:1366 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183873405	chr5:108587657-108587658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548881061	chr5:108587684-108587685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs79509896	chr5:108587688-108587689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552242537	chr5:108587695-108587696	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs187722722	chr5:108587733-108587734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554025486	chr5:108587769-108587770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs532265680	chr5:108587777-108587778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs549110922	chr5:108587785-108587786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376370852	chr5:108587820-108587821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570932262	chr5:108587850-108587851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs79957275	chr5:108587851-108587852	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556160564	chr5:108587897-108587898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576006433	chr5:108587910-108587911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs114562114	chr5:108587914-108587915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs555233359	chr5:108587941-108587942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs547323756	chr5:108587945-108587946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs34325251	chr5:108587954-108587955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs149035858	chr5:108587967-108587968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374744356	chr5:108587969-108587970	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541226433	chr5:108587971-108587972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370449601	chr5:108588062-108588063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs114895409	chr5:108588072-108588073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs536012934	chr5:108588106-108588107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs543125618	chr5:108588112-108588113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs73215766	chr5:108588123-108588124	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs73781211	chr5:108588127-108588128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374430526	chr5:108588128-108588129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs568770784	chr5:108588169-108588170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527937943	chr5:108588173-108588174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547984640	chr5:108588187-108588188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570929296	chr5:108588190-108588191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs539950206	chr5:108588237-108588238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556223980	chr5:108588269-108588270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs569756714	chr5:108588280-108588281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs74547965	chr5:108588301-108588302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs144581337	chr5:108588412-108588413	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs572316361	chr5:108588418-108588419	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs534582110	chr5:108588424-108588425	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs557956820	chr5:108588471-108588472	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs193101075	chr5:108588472-108588473	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs543541156	chr5:108588490-108588491	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs563366409	chr5:108588491-108588492	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs573729884	chr5:108588535-108588536	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs537156446	chr5:108588540-108588541	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs542653115	chr5:108588570-108588571	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs559356729	chr5:108588618-108588619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs528008801	chr5:108588650-108588651	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs115746665	chr5:108588663-108588664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs564736599	chr5:108588730-108588731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs146884733	chr5:108588731-108588732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108585200-108589600	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:108586000-108606000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:108586600-108588200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:108586800-108589800	Weak transcription	Placenta	Placenta
5	chr5:108588200-108588400	Enhancers	Spleen	Spleen
6	chr5:108588200-108588800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:108588200-108589000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:108588400-108588600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:108588400-108589800	Enhancers	Ovary	ovary
10	chr5:108588600-108589800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:108588800-108594000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:108589000-108589200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:108589000-108590200	Enhancers	Right Atrium	heart
14	chr5:108589000-108592000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr5:108589200-108589400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:108589200-108590200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:108589400-108589800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr5:108589600-108590200	Enhancers	Aorta	Aorta
19	chr5:108589600-108590200	Enhancers	Fetal Muscle Leg	muscle
20	chr5:108589600-108592600	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr5:108589800-108590200	Enhancers	Placenta	Placenta
22	chr5:108590000-108590800	Enhancers	HSMMtube	muscle
23	chr5:108590200-108590600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr5:108590200-108591000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr5:108590200-108591000	Enhancers	Fetal Heart	heart
26	chr5:108592000-108592600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:108593800-108594000	Weak transcription	Pancreas	Pancrea
28	chr5:108594000-108594200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr5:108594000-108594200	ZNF genes & repeats	Pancreas	Pancrea
30	chr5:108594200-108601600	Weak transcription	Pancreas	Pancrea
31	chr5:108594800-108595000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr5:108601600-108601800	ZNF genes & repeats	Pancreas	Pancrea
33	chr5:108601800-108615000	Weak transcription	Pancreas	Pancrea
34	chr5:108611400-108611800	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:108611800-108612200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:108612600-108617200	Weak transcription	Aorta	Aorta
37	chr5:108614600-108616200	Weak transcription	Spleen	Spleen
38	chr5:108615000-108615200	ZNF genes & repeats	Pancreas	Pancrea
39	chr5:108615200-108616400	Weak transcription	Pancreas	Pancrea
40	chr5:108616200-108616400	ZNF genes & repeats	Spleen	Spleen
41	chr5:108616200-108618000	Enhancers	Placenta	Placenta
42	chr5:108616400-108617200	Enhancers	Pancreas	Pancrea
43	chr5:108617200-108617600	ZNF genes & repeats	Aorta	Aorta
44	chr5:108617600-108621800	Weak transcription	Aorta	Aorta
45	chr5:108623800-108630200	Weak transcription	Pancreas	Pancrea

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