Variant report

Variant	nsv432792
Chromosome Location	chr5:100756024-100867529
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
2	chr5:100801149..100803807-chr5:101019076..101021697,2	K562	blood:
3	chr5:100855750..100857739-chr5:100867782..100869790,2	MCF-7	breast:
4	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:
5	chr5:100822374..100824048-chr5:100824712..100826340,2	K562	blood:
6	chr5:100811479..100814241-chr5:100816416..100818516,2	MCF-7	breast:

Extended variants
information (count: 1253 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:1253 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11953880	chr5:100756024-100756025	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs565025676	chr5:100756029-100756030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs145522119	chr5:100756098-100756099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397813954	chr5:100756107-100756108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11950545	chr5:100756153-100756154	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs184554317	chr5:100756158-100756159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs562116723	chr5:100756162-100756163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188441629	chr5:100756180-100756181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs528956507	chr5:100756232-100756233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs547840373	chr5:100756248-100756249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs559819256	chr5:100756266-100756267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs545040953	chr5:100756296-100756297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11950589	chr5:100756300-100756301	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs369131321	chr5:100756323-100756324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs67934454	chr5:100756324-100756325	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs34598185	chr5:100756336-100756337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529912404	chr5:100756357-100756358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547211059	chr5:100756359-100756360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs539590603	chr5:100756360-100756361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs144258434	chr5:100756363-100756364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539345170	chr5:100756367-100756368	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148717640	chr5:100756386-100756387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34364462	chr5:100756416-100756417	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569238223	chr5:100756432-100756433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs192267965	chr5:100756459-100756460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377030638	chr5:100756484-100756485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs56009236	chr5:100756485-100756486	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370305933	chr5:100756497-100756498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs58568962	chr5:100756498-100756499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573330128	chr5:100756500-100756501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs61276974	chr5:100756504-100756505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533732990	chr5:100756510-100756511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199648979	chr5:100756525-100756526	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs59308972	chr5:100756528-100756529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200726713	chr5:100756529-100756530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs372602379	chr5:100756531-100756532	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs60230307	chr5:100756532-100756533	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189378661	chr5:100756546-100756547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142304231	chr5:100756605-100756606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs557645408	chr5:100756664-100756665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181832164	chr5:100756775-100756776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34260639	chr5:100756791-100756792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs574047304	chr5:100756799-100756800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs374802499	chr5:100756802-100756803	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184969267	chr5:100756844-100756845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs546944078	chr5:100756855-100756856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs41435454	chr5:100756873-100756874	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs74347195	chr5:100756887-100756888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs34798913	chr5:100756897-100756898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs565446036	chr5:100756899-100756900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	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
Glioblastoma multiforme	22286061	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Melanoma	20688739	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:100754800-100758600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:100754800-100759400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:100755000-100759200	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr5:100755000-100759400	Weak transcription	NHDF-Ad	bronchial
5	chr5:100755200-100760400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr5:100758200-100758800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:100758600-100760400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:100758600-100760800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:100758800-100759200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:100759200-100760200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr5:100759200-100760200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr5:100759400-100759800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:100759400-100759800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:100759400-100762800	Enhancers	NHDF-Ad	bronchial
15	chr5:100759600-100760000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:100759600-100761600	Enhancers	HSMMtube	muscle
17	chr5:100759600-100762600	Enhancers	Osteobl	bone
18	chr5:100759800-100760400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:100759800-100760800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:100759800-100761000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:100759800-100761600	Enhancers	NH-A	brain
22	chr5:100760000-100762000	Enhancers	HSMM	muscle
23	chr5:100760200-100760600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:100760200-100760600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr5:100760200-100762400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:100760400-100760600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:100760400-100761400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr5:100760400-100761600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:100760600-100760800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:100760600-100760800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:100760600-100760800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr5:100760600-100761000	Enhancers	Adipose Nuclei	Adipose
33	chr5:100760800-100761000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:100760800-100761000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr5:100760800-100761000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr5:100760800-100761200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr5:100760800-100761400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr5:100761000-100761400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:100761000-100761600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:100761000-100762600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:100761000-100762600	Enhancers	Muscle Satellite Cultured Cells	--
42	chr5:100761200-100761600	Enhancers	Fetal Lung	lung
43	chr5:100761200-100763000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr5:100761400-100761600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:100761600-100762000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr5:100761600-100763000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:100761600-100764600	Weak transcription	NH-A	brain
48	chr5:100762000-100762800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:100762000-100764800	Weak transcription	HSMM	muscle
50	chr5:100762600-100764200	Weak transcription	Muscle Satellite Cultured Cells	--

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