Variant report

Variant	nsv1028785
Chromosome Location	chr5:92564952-92596445
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:92572759..92575011-chr5:92577902..92579568,2	MCF-7	breast:
2	chr5:92572759..92575011-chr5:92577902..92579568,2	MCF-7	breast:
3	chr5:92245272..92245812-chr5:92587648..92588348,2	MCF-7	breast:

Extended variants
information (count: 734 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183438935	chr5:92570806-92570807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560411328	chr5:92570825-92570826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61513449	chr5:92570831-92570832	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs188546931	chr5:92570863-92570864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145637432	chr5:92570876-92570877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531366388	chr5:92570898-92570899	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551087974	chr5:92570921-92570922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs190300889	chr5:92570936-92570937	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527405912	chr5:92570938-92570939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs547044617	chr5:92571003-92571004	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs200532018	chr5:92571117-92571118	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182784278	chr5:92571128-92571129	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187170637	chr5:92571153-92571154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs144460380	chr5:92571170-92571171	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549700234	chr5:92571195-92571196	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs569590269	chr5:92571229-92571230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538282794	chr5:92571232-92571233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs569962934	chr5:92571293-92571294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs557854628	chr5:92571307-92571308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191589153	chr5:92571313-92571314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs534036572	chr5:92571322-92571323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567070977	chr5:92571343-92571344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs140763097	chr5:92571344-92571345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201862493	chr5:92571368-92571369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs112082904	chr5:92571371-92571372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs573368637	chr5:92571436-92571437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530918013	chr5:92571438-92571439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs71639276	chr5:92571446-92571447	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs71639277	chr5:92571449-92571450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs183643185	chr5:92571498-92571499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs574299011	chr5:92571611-92571612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78452602	chr5:92571651-92571652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12657207	chr5:92571663-92571664	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs142587318	chr5:92571701-92571702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545642812	chr5:92571734-92571735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs531382768	chr5:92571779-92571780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111643978	chr5:92571803-92571804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73129377	chr5:92571828-92571829	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs150957745	chr5:92571907-92571908	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs188800617	chr5:92571925-92571926	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs535296709	chr5:92571930-92571931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553105264	chr5:92571952-92571953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs115527660	chr5:92571996-92571997	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs4441863	chr5:92571997-92571998	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs112368416	chr5:92572010-92572011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs532312733	chr5:92572101-92572102	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs75490323	chr5:92572103-92572104	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs193228297	chr5:92572160-92572161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185240643	chr5:92572273-92572274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190382732	chr5:92572289-92572290	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Esophageal adenocarcinoma	18519675	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
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:274 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:92570800-92573000	Enhancers	Hela-S3	cervix
2	chr5:92572400-92573000	Enhancers	NHLF	lung
3	chr5:92572400-92573200	Enhancers	HMEC	breast
4	chr5:92572400-92573600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:92572400-92573600	Enhancers	NHEK	skin
6	chr5:92572600-92573000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:92572600-92573000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:92572600-92573000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:92572600-92573000	Enhancers	NH-A	brain
10	chr5:92573000-92573400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:92573000-92579000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr5:92573000-92581000	Weak transcription	NHLF	lung
13	chr5:92573400-92573600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr5:92573600-92581000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:92573600-92585400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:92577400-92578000	Enhancers	Fetal Kidney	kidney
17	chr5:92577400-92578200	Enhancers	Fetal Lung	lung
18	chr5:92577600-92577800	Enhancers	Fetal Stomach	stomach
19	chr5:92578000-92578200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr5:92578000-92578800	Weak transcription	Fetal Kidney	kidney
21	chr5:92578200-92578600	Weak transcription	Fetal Lung	lung
22	chr5:92578200-92579000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:92578600-92579400	Weak transcription	Fetal Stomach	stomach
24	chr5:92578600-92579800	Enhancers	Fetal Lung	lung
25	chr5:92578800-92579600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr5:92578800-92579600	Enhancers	Fetal Kidney	kidney
27	chr5:92578800-92579800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr5:92578800-92579800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr5:92578800-92579800	Enhancers	HUVEC	blood vessel
30	chr5:92578800-92584000	Enhancers	HepG2	liver
31	chr5:92579000-92579200	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr5:92579000-92579800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:92579000-92579800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr5:92579000-92581000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr5:92579200-92579400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr5:92579200-92580200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:92579400-92579600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
38	chr5:92579400-92582600	Enhancers	Fetal Stomach	stomach
39	chr5:92579600-92579800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:92579600-92580600	Weak transcription	Fetal Kidney	kidney
41	chr5:92579600-92581400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr5:92579600-92581800	Enhancers	Stomach Smooth Muscle	stomach
43	chr5:92579600-92582000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr5:92579800-92580800	Weak transcription	Fetal Lung	lung
45	chr5:92579800-92581000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:92579800-92582000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr5:92579800-92584600	Weak transcription	HUVEC	blood vessel
48	chr5:92580200-92582200	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr5:92580200-92582600	Enhancers	Colon Smooth Muscle	Colon
50	chr5:92580600-92583200	Enhancers	Fetal Kidney	kidney

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