Variant report

Variant	nsv1032060
Chromosome Location	chr5:98022226-98093492
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98034269..98036713-chr5:98038711..98041425,2	K562	blood:
2	chr5:98034269..98036713-chr5:98038711..98041425,2	K562	blood:
3	chr5:98065365..98067941-chr5:98071458..98074162,2	MCF-7	breast:
4	chr5:98088672..98090405-chr5:98108104..98109838,2	MCF-7	breast:
5	chr10:102748364..102748886-chr5:98086449..98087097,2	MCF-7	breast:
6	chr17:57919045..57922016-chr5:98088755..98091248,2	MCF-7	breast:
7	chr5:98065365..98067941-chr5:98071458..98074162,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000174136	chromatin interactions
ENSG00000246763	chromatin interactions

Extended variants
information (count: 2561 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:2561 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542080744	chr5:98022253-98022254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374173213	chr5:98022255-98022256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551700519	chr5:98022256-98022257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182137996	chr5:98022273-98022274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530761065	chr5:98022313-98022314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs408005	chr5:98022320-98022321	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs146647285	chr5:98022351-98022352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs186749832	chr5:98022372-98022373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs141423140	chr5:98022377-98022378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs571270765	chr5:98022383-98022384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs145137444	chr5:98022388-98022389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557666619	chr5:98022390-98022391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575725106	chr5:98022400-98022401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536857895	chr5:98022438-98022439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs73149563	chr5:98022482-98022483	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs116447897	chr5:98022508-98022509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs540584925	chr5:98022519-98022520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs34459049	chr5:98022520-98022521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs565276588	chr5:98022535-98022536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs577209139	chr5:98022564-98022565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190652664	chr5:98022581-98022582	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181948428	chr5:98022600-98022601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs560715799	chr5:98022606-98022607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527468506	chr5:98022609-98022610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370359649	chr5:98022657-98022658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs369188412	chr5:98022717-98022718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374261075	chr5:98022720-98022721	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374506946	chr5:98022723-98022724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs139023861	chr5:98022724-98022725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs56659111	chr5:98022744-98022745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548776814	chr5:98022793-98022794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560603955	chr5:98022800-98022801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528171315	chr5:98022873-98022874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548783176	chr5:98022934-98022935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185140337	chr5:98022947-98022948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs571144407	chr5:98022948-98022949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs538653733	chr5:98022977-98022978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs55827362	chr5:98022978-98022979	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs151301906	chr5:98022989-98022990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189615365	chr5:98023002-98023003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555203815	chr5:98023072-98023073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573523829	chr5:98023107-98023108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs368785572	chr5:98023120-98023121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs373637140	chr5:98023121-98023122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs182137239	chr5:98023147-98023148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs59946738	chr5:98023151-98023152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9800192	chr5:98023152-98023153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs60140602	chr5:98023155-98023156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs60449016	chr5:98023163-98023164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs58143096	chr5:98023167-98023168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
Basal cell lymphoma	17053054	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
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:201 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98016200-98026000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:98026000-98040000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:98026400-98027000	ZNF genes & repeats	Liver	Liver
4	chr5:98033800-98034200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:98034000-98034800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:98034000-98034800	Enhancers	Osteobl	bone
7	chr5:98034200-98034600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr5:98034800-98036200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr5:98034800-98036400	Weak transcription	Osteobl	bone
10	chr5:98036200-98036600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr5:98036200-98037000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:98036200-98037000	Enhancers	NHDF-Ad	bronchial
13	chr5:98036400-98036800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:98036400-98037200	Enhancers	Osteobl	bone
15	chr5:98036600-98036800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr5:98036600-98037000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr5:98036800-98037000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:98036800-98037000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:98037600-98038200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:98041200-98041600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr5:98041200-98041600	Enhancers	NHDF-Ad	bronchial
22	chr5:98041400-98041600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:98041600-98044200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:98041600-98048800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr5:98044000-98044800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr5:98044200-98046000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:98044800-98045400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:98045400-98047200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:98046000-98046800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:98046800-98047400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:98047200-98048600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:98047400-98050800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:98048200-98049200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:98048400-98049200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr5:98048400-98049400	Enhancers	NHDF-Ad	bronchial
36	chr5:98048600-98048800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr5:98048600-98049200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:98049000-98049200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr5:98049000-98049400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr5:98050800-98053400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:98053400-98054200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:98054200-98055200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:98055200-98056600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr5:98056400-98057000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:98056400-98057200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr5:98056400-98057800	Enhancers	NHDF-Ad	bronchial
47	chr5:98056400-98059400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr5:98056400-98059400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr5:98056600-98057200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr5:98056600-98059200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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