Variant report

Variant	nsv598090
Chromosome Location	chr5:49441966-49514368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7452 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:7452 , 50 per page) page: 1 2 3 4 5 6 7 ... 150

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12657934	chr5:49441966-49441967	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs569930135	chr5:49441969-49441970	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557404247	chr5:49441972-49441973	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150019245	chr5:49441974-49441975	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536811785	chr5:49441975-49441976	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs144223284	chr5:49441986-49441987	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573851924	chr5:49441987-49441988	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113470192	chr5:49441994-49441995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs535886063	chr5:49441995-49441996	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10940514	chr5:49442000-49442001	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs572442029	chr5:49442007-49442008	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541550944	chr5:49442008-49442009	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs564529126	chr5:49442015-49442016	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188975866	chr5:49442026-49442027	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181696453	chr5:49442032-49442033	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185232402	chr5:49442033-49442034	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529544201	chr5:49442034-49442035	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs548991841	chr5:49442035-49442036	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs189685164	chr5:49442037-49442038	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1687594	chr5:49442042-49442043	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs564741223	chr5:49442043-49442044	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1687595	chr5:49442058-49442059	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs570965901	chr5:49442061-49442062	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536893549	chr5:49442070-49442071	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs550494363	chr5:49442076-49442077	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567576907	chr5:49442080-49442081	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1687596	chr5:49442082-49442083	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs553194487	chr5:49442083-49442084	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572478310	chr5:49442084-49442085	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534968930	chr5:49442085-49442086	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558329989	chr5:49442088-49442089	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs578136831	chr5:49442089-49442090	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs117347157	chr5:49442099-49442100	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112234732	chr5:49442102-49442103	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10940520	chr5:49442108-49442109	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs542967529	chr5:49442112-49442113	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs559578269	chr5:49442119-49442120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs528081596	chr5:49442123-49442124	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550961777	chr5:49442129-49442130	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs539011936	chr5:49442131-49442132	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs181286035	chr5:49442135-49442136	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557413150	chr5:49442141-49442142	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140191932	chr5:49442142-49442143	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145522407	chr5:49442166-49442167	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs567364054	chr5:49442168-49442169	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536402863	chr5:49442172-49442173	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185071364	chr5:49442178-49442179	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs566768975	chr5:49442181-49442182	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs189880230	chr5:49442183-49442184	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs542831577	chr5:49442185-49442186	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:271 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49440000-49442200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
2	chr5:49441400-49442800	Weak transcription	Brain Hippocampus Middle	brain
3	chr5:49441400-49442800	Weak transcription	HSMMtube	muscle
4	chr5:49441400-49447800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr5:49441400-49447800	Weak transcription	GM12878-XiMat	blood
6	chr5:49441400-49448800	Weak transcription	Fetal Heart	heart
7	chr5:49441400-49450400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr5:49441400-49450400	Weak transcription	Hela-S3	cervix
9	chr5:49441400-49450400	Weak transcription	NH-A	brain
10	chr5:49441400-49450400	Weak transcription	NHEK	skin
11	chr5:49441400-49450400	Weak transcription	Osteobl	bone
12	chr5:49447800-49448000	ZNF genes & repeats	GM12878-XiMat	blood
13	chr5:49447800-49448200	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr5:49447800-49451200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
15	chr5:49447800-49451200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr5:49448400-49451000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:49448600-49449000	Weak transcription	Brain Hippocampus Middle	brain
18	chr5:49448600-49449000	Weak transcription	HSMMtube	muscle
19	chr5:49448600-49450800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:49448600-49450800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr5:49448600-49451000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
22	chr5:49448800-49449000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
23	chr5:49448800-49449200	ZNF genes & repeats	Liver	Liver
24	chr5:49448800-49449200	ZNF genes & repeats	Fetal Heart	heart
25	chr5:49448800-49449200	ZNF genes & repeats	Fetal Kidney	kidney
26	chr5:49448800-49449200	Active TSS	Psoas Muscle	Psoas
27	chr5:49448800-49449400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:49449000-49449200	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
29	chr5:49449200-49450000	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:49449200-49450000	Weak transcription	HSMMtube	muscle
31	chr5:49449200-49450400	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:49449200-49450400	Weak transcription	Liver	Liver
33	chr5:49449200-49450400	Weak transcription	Fetal Heart	heart
34	chr5:49449200-49450400	Weak transcription	Fetal Kidney	kidney
35	chr5:49449200-49450400	Weak transcription	Psoas Muscle	Psoas
36	chr5:49449200-49450400	Weak transcription	GM12878-XiMat	blood
37	chr5:49450200-49450400	Enhancers	Thymus	Thymus
38	chr5:49450200-49450800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
39	chr5:49450200-49451000	ZNF genes & repeats	Primary T cells from cord blood	blood
40	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr5:49450400-49450600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:49450400-49450600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr5:49450400-49450600	Bivalent/Poised TSS	Pancreas	Pancrea
45	chr5:49450400-49450600	Flanking Bivalent TSS/Enh	Right Ventricle	heart
46	chr5:49450400-49450600	Bivalent Enhancer	HSMM	muscle
47	chr5:49450400-49450800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr5:49450400-49450800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:49450400-49450800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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