Variant report

Variant	nsv830285
Chromosome Location	chr5:49445361-49527825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:49522747..49523250-chr9:66823014..66823516,2	MCF-7	breast:
2	chr5:49521747..49523250-chr8:46849640..46851140,2	MCF-7	breast:

Extended variants
information (count: 8235 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:8235 , 50 per page) page: 1 2 3 4 5 6 7 ... 165

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185050474	chr5:49445370-49445371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs527985528	chr5:49445381-49445382	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556008485	chr5:49445385-49445386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs10064915	chr5:49445397-49445398	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs541372756	chr5:49445401-49445402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201574709	chr5:49445406-49445407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs373684283	chr5:49445420-49445421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs188986945	chr5:49445430-49445431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532837863	chr5:49445444-49445445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199531944	chr5:49445456-49445457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs181516809	chr5:49445465-49445466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528972264	chr5:49445474-49445475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs548640621	chr5:49445475-49445476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200545115	chr5:49445486-49445487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528248800	chr5:49445501-49445502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185349774	chr5:49445502-49445503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs375981407	chr5:49445510-49445511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs36144253	chr5:49445522-49445523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs539474634	chr5:49445523-49445524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556579788	chr5:49445541-49445542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs144092221	chr5:49445543-49445544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535972684	chr5:49445565-49445566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs11519245	chr5:49445599-49445600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550379170	chr5:49445622-49445623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs199739050	chr5:49445625-49445626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200829680	chr5:49445635-49445636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555859270	chr5:49445657-49445658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs572595047	chr5:49445660-49445661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189417912	chr5:49445661-49445662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201784415	chr5:49445665-49445666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs578185958	chr5:49445666-49445667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181389072	chr5:49445688-49445689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562966270	chr5:49445689-49445690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs185954165	chr5:49445692-49445693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542324005	chr5:49445698-49445699	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559014510	chr5:49445703-49445704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs528320045	chr5:49445709-49445710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551531710	chr5:49445710-49445711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565065705	chr5:49445713-49445714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150703325	chr5:49445716-49445717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs550863871	chr5:49445727-49445728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs4415115	chr5:49445734-49445735	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs535842397	chr5:49445735-49445736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549549552	chr5:49445746-49445747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs189883713	chr5:49445748-49445749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181802924	chr5:49445749-49445750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536309197	chr5:49445765-49445766	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4379243	chr5:49445767-49445768	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs149817767	chr5:49445784-49445785	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs186134567	chr5:49445785-49445786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Cancer	16751803	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	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
Hepatocellular carcinoma	16750200	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

Chromatin state (count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49441400-49447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr5:49441400-49447800	Weak transcription	GM12878-XiMat	blood
3	chr5:49441400-49448800	Weak transcription	Fetal Heart	heart
4	chr5:49441400-49450400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:49441400-49450400	Weak transcription	Hela-S3	cervix
6	chr5:49441400-49450400	Weak transcription	NH-A	brain
7	chr5:49441400-49450400	Weak transcription	NHEK	skin
8	chr5:49441400-49450400	Weak transcription	Osteobl	bone
9	chr5:49447800-49448000	ZNF genes & repeats	GM12878-XiMat	blood
10	chr5:49447800-49448200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
11	chr5:49447800-49451200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr5:49447800-49451200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
13	chr5:49448400-49451000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr5:49448600-49449000	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:49448600-49449000	Weak transcription	HSMMtube	muscle
16	chr5:49448600-49450800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:49448600-49450800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
18	chr5:49448600-49451000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
19	chr5:49448800-49449000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr5:49448800-49449200	ZNF genes & repeats	Liver	Liver
21	chr5:49448800-49449200	ZNF genes & repeats	Fetal Heart	heart
22	chr5:49448800-49449200	ZNF genes & repeats	Fetal Kidney	kidney
23	chr5:49448800-49449200	Active TSS	Psoas Muscle	Psoas
24	chr5:49448800-49449400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr5:49449000-49449200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
26	chr5:49449200-49450000	Weak transcription	Brain Hippocampus Middle	brain
27	chr5:49449200-49450000	Weak transcription	HSMMtube	muscle
28	chr5:49449200-49450400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr5:49449200-49450400	Weak transcription	Liver	Liver
30	chr5:49449200-49450400	Weak transcription	Fetal Heart	heart
31	chr5:49449200-49450400	Weak transcription	Fetal Kidney	kidney
32	chr5:49449200-49450400	Weak transcription	Psoas Muscle	Psoas
33	chr5:49449200-49450400	Weak transcription	GM12878-XiMat	blood
34	chr5:49450200-49450400	Enhancers	Thymus	Thymus
35	chr5:49450200-49450800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
36	chr5:49450200-49451000	ZNF genes & repeats	Primary T cells from cord blood	blood
37	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:49450400-49450600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr5:49450400-49450600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:49450400-49450600	Bivalent/Poised TSS	Pancreas	Pancrea
42	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
43	chr5:49450400-49450600	Bivalent Enhancer	HSMM	muscle
44	chr5:49450400-49450800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
45	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr5:49450400-49450800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:49450400-49450800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:49450400-49450800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
50	chr5:49450400-49450800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell

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