Variant report

Variant	nsv598088
Chromosome Location	chr5:49420166-49441715
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1637 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:1637 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62387511	chr5:49430806-49430807	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs142382505	chr5:49430818-49430819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs150528949	chr5:49430834-49430835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs146114615	chr5:49430845-49430846	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs62387512	chr5:49430849-49430850	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs149604459	chr5:49430858-49430859	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs144340723	chr5:49430861-49430862	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs148783628	chr5:49430863-49430864	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs62387513	chr5:49430865-49430866	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201368709	chr5:49430875-49430876	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs62387514	chr5:49430878-49430879	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs77684254	chr5:49430884-49430885	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs150957395	chr5:49430902-49430903	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs79827646	chr5:49430912-49430913	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs532999217	chr5:49430919-49430920	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62387515	chr5:49430921-49430922	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs77855213	chr5:49430928-49430929	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs199660780	chr5:49430936-49430937	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs62387516	chr5:49430942-49430943	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs62387517	chr5:49430953-49430954	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs80167793	chr5:49430956-49430957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs111273445	chr5:49430963-49430964	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs78994781	chr5:49430971-49430972	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs62387518	chr5:49430980-49430981	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs62387519	chr5:49430992-49430993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs62387520	chr5:49431001-49431002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs62387521	chr5:49431013-49431014	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs200327133	chr5:49431034-49431035	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs113936875	chr5:49431040-49431041	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs199499554	chr5:49431077-49431078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370808100	chr5:49431083-49431084	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs373901748	chr5:49431097-49431098	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs529149682	chr5:49431100-49431101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs548219321	chr5:49431111-49431112	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs568099974	chr5:49431112-49431113	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs527809719	chr5:49431128-49431129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547590885	chr5:49431129-49431130	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs372511456	chr5:49431143-49431144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200433398	chr5:49431144-49431145	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs377136689	chr5:49431146-49431147	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs570883068	chr5:49431151-49431152	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs200797118	chr5:49431160-49431161	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201468845	chr5:49431173-49431174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs199729318	chr5:49431176-49431177	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs375616344	chr5:49431188-49431189	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs539646802	chr5:49431190-49431191	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556713481	chr5:49431202-49431203	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs567875063	chr5:49431234-49431235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs62387522	chr5:49431238-49431239	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs112557797	chr5:49431272-49431273	ZNF genes & repeats	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:575 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:49430800-49431000	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:49430800-49431000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
3	chr5:49430800-49431000	ZNF genes & repeats	Osteobl	bone
4	chr5:49430800-49432000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr5:49430800-49432000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:49430800-49432000	ZNF genes & repeats	Colonic Mucosa	Colon
7	chr5:49430800-49432000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
8	chr5:49431400-49432000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
9	chr5:49431600-49431800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:49431600-49431800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
11	chr5:49431600-49431800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr5:49431600-49431800	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
13	chr5:49431600-49431800	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr5:49431600-49431800	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
15	chr5:49431600-49432000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr5:49431600-49432000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:49431600-49432000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:49431600-49432000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:49431600-49432000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr5:49431600-49432000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
21	chr5:49431600-49432000	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
22	chr5:49431600-49432000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
23	chr5:49431600-49432000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
24	chr5:49431600-49432000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:49431600-49432000	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:49431600-49432000	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:49431600-49432000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
28	chr5:49431600-49432000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
29	chr5:49431600-49432000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
30	chr5:49431600-49432000	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
31	chr5:49431600-49432000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
32	chr5:49431600-49432000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr5:49431600-49432000	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
34	chr5:49431600-49432000	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
35	chr5:49431600-49432000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:49431600-49432000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr5:49431600-49432000	ZNF genes & repeats	Muscle Satellite Cultured Cells	--
38	chr5:49431600-49432000	ZNF genes & repeats	Adipose Nuclei	Adipose
39	chr5:49431600-49432000	ZNF genes & repeats	Aorta	Aorta
40	chr5:49431600-49432000	ZNF genes & repeats	Liver	Liver
41	chr5:49431600-49432000	ZNF genes & repeats	Brain Angular Gyrus	brain
42	chr5:49431600-49432000	ZNF genes & repeats	Brain Anterior Caudate	brain
43	chr5:49431600-49432000	ZNF genes & repeats	Brain Cingulate Gyrus	brain
44	chr5:49431600-49432000	ZNF genes & repeats	Brain Hippocampus Middle	brain
45	chr5:49431600-49432000	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:49431600-49432000	ZNF genes & repeats	Brain Substantia Nigra	brain
47	chr5:49431600-49432000	ZNF genes & repeats	Colon Smooth Muscle	Colon
48	chr5:49431600-49432000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr5:49431600-49432000	ZNF genes & repeats	Fetal Brain Male	brain
50	chr5:49431600-49432000	ZNF genes & repeats	Fetal Heart	heart

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