Variant report

Variant	nsv598092
Chromosome Location	chr5:49448027-49514368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6696 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:6696 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2125463	chr5:49448027-49448028	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558023555	chr5:49448035-49448036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs577266218	chr5:49448037-49448038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200202350	chr5:49448038-49448039	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs373670665	chr5:49448046-49448047	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs542993190	chr5:49448047-49448048	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139282552	chr5:49448066-49448067	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs146075354	chr5:49448076-49448077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113874676	chr5:49448082-49448083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs563079297	chr5:49448087-49448088	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs146749993	chr5:49448089-49448090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs573696801	chr5:49448093-49448094	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542329120	chr5:49448122-49448123	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs147782832	chr5:49448124-49448125	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs62388870	chr5:49448127-49448128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs62388899	chr5:49448140-49448141	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs62388900	chr5:49448159-49448160	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs62388901	chr5:49448161-49448162	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs62388902	chr5:49448164-49448165	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62388903	chr5:49448166-49448167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs62386060	chr5:49448169-49448170	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs201976611	chr5:49448170-49448171	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs551694360	chr5:49448171-49448172	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs565172914	chr5:49448172-49448173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533389567	chr5:49448189-49448190	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200005427	chr5:49448192-49448193	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201137405	chr5:49448195-49448196	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550181437	chr5:49448196-49448197	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149598973	chr5:49448206-49448207	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs182654236	chr5:49448209-49448210	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs570030257	chr5:49448225-49448226	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs112784564	chr5:49448244-49448245	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs78009120	chr5:49448246-49448247	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535950854	chr5:49448247-49448248	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs76132921	chr5:49448248-49448249	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375632369	chr5:49448252-49448253	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112175814	chr5:49448257-49448258	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549171419	chr5:49448259-49448260	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs566306071	chr5:49448260-49448261	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs200405643	chr5:49448267-49448268	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534906410	chr5:49448268-49448269	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570073519	chr5:49448302-49448303	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571593056	chr5:49448336-49448337	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537314860	chr5:49448347-49448348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556562655	chr5:49448354-49448355	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144332249	chr5:49448380-49448381	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144982364	chr5:49448381-49448382	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573509562	chr5:49448395-49448396	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542715682	chr5:49448414-49448415	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199938298	chr5:49448423-49448424	ZNF genes & repeats 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:265 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49441400-49448800	Weak transcription	Fetal Heart	heart
2	chr5:49441400-49450400	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr5:49441400-49450400	Weak transcription	Hela-S3	cervix
4	chr5:49441400-49450400	Weak transcription	NH-A	brain
5	chr5:49441400-49450400	Weak transcription	NHEK	skin
6	chr5:49441400-49450400	Weak transcription	Osteobl	bone
7	chr5:49447800-49448200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
8	chr5:49447800-49451200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
9	chr5:49447800-49451200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr5:49448400-49451000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:49448600-49449000	Weak transcription	Brain Hippocampus Middle	brain
12	chr5:49448600-49449000	Weak transcription	HSMMtube	muscle
13	chr5:49448600-49450800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:49448600-49450800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
15	chr5:49448600-49451000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr5:49448800-49449000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr5:49448800-49449200	ZNF genes & repeats	Liver	Liver
18	chr5:49448800-49449200	ZNF genes & repeats	Fetal Heart	heart
19	chr5:49448800-49449200	ZNF genes & repeats	Fetal Kidney	kidney
20	chr5:49448800-49449200	Active TSS	Psoas Muscle	Psoas
21	chr5:49448800-49449400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr5:49449000-49449200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
23	chr5:49449200-49450000	Weak transcription	Brain Hippocampus Middle	brain
24	chr5:49449200-49450000	Weak transcription	HSMMtube	muscle
25	chr5:49449200-49450400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr5:49449200-49450400	Weak transcription	Liver	Liver
27	chr5:49449200-49450400	Weak transcription	Fetal Heart	heart
28	chr5:49449200-49450400	Weak transcription	Fetal Kidney	kidney
29	chr5:49449200-49450400	Weak transcription	Psoas Muscle	Psoas
30	chr5:49449200-49450400	Weak transcription	GM12878-XiMat	blood
31	chr5:49450200-49450400	Enhancers	Thymus	Thymus
32	chr5:49450200-49450800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
33	chr5:49450200-49451000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:49450400-49450600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:49450400-49450600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:49450400-49450600	Bivalent/Poised TSS	Pancreas	Pancrea
39	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
40	chr5:49450400-49450600	Bivalent Enhancer	HSMM	muscle
41	chr5:49450400-49450800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
42	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:49450400-49450800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr5:49450400-49450800	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:49450400-49450800	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
47	chr5:49450400-49450800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr5:49450400-49450800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr5:49450400-49450800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:49450400-49450800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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