Variant report

Variant	nsv525129
Chromosome Location	chr5:178385585-178390237
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 193 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:193 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10070619	chr5:178385585-178385586	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs138035503	chr5:178385626-178385627	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192077214	chr5:178385664-178385665	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374878565	chr5:178385694-178385695	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs149577540	chr5:178385695-178385696	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs114840372	chr5:178385697-178385698	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144294083	chr5:178385743-178385744	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs10077355	chr5:178385752-178385753	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148291422	chr5:178385770-178385771	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188111166	chr5:178385783-178385784	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550318671	chr5:178385795-178385796	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191256251	chr5:178385809-178385810	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs78107268	chr5:178385846-178385847	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554094043	chr5:178385917-178385918	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs562564742	chr5:178385943-178385944	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs565729477	chr5:178385969-178385970	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531382080	chr5:178385991-178385992	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539485013	chr5:178386012-178386013	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs374381335	chr5:178386021-178386022	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs397762221	chr5:178386031-178386032	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs201327339	chr5:178386032-178386033	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs199717128	chr5:178386033-178386034	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs557808764	chr5:178386034-178386035	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576102163	chr5:178386108-178386109	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543568064	chr5:178386145-178386146	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530873383	chr5:178386192-178386193	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs117329971	chr5:178386213-178386214	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs541314656	chr5:178386223-178386224	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143028698	chr5:178386224-178386225	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs28668765	chr5:178386231-178386232	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs182171060	chr5:178386237-178386238	Strong transcription ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536319643	chr5:178386412-178386413	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs545048129	chr5:178386413-178386414	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs147532150	chr5:178386442-178386443	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs377306804	chr5:178386444-178386445	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs34551446	chr5:178386488-178386489	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs186918337	chr5:178386547-178386548	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs529504977	chr5:178386553-178386554	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs547670872	chr5:178386580-178386581	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140235766	chr5:178386583-178386584	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568399174	chr5:178386603-178386604	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192482791	chr5:178386629-178386630	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs539767359	chr5:178386630-178386631	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs547813314	chr5:178386633-178386634	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557696278	chr5:178386645-178386646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569959888	chr5:178386661-178386662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs56740821	chr5:178386662-178386663	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185090956	chr5:178386669-178386670	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573768360	chr5:178386693-178386694	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188774669	chr5:178386699-178386700	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Glioma	20126413	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr5:178373200-178385800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:178375600-178385800	Weak transcription	Osteobl	bone
4	chr5:178379000-178387400	ZNF genes & repeats	Ovary	ovary
5	chr5:178380000-178393600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
6	chr5:178381400-178394200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr5:178381600-178386600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:178382400-178386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr5:178382400-178389400	Weak transcription	HSMM	muscle
10	chr5:178382600-178389800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr5:178383000-178389800	Weak transcription	Pancreas	Pancrea
12	chr5:178383400-178394400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:178384200-178388000	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr5:178384400-178385600	Weak transcription	Fetal Heart	heart
15	chr5:178384400-178395600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr5:178384600-178386400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
17	chr5:178384600-178386600	ZNF genes & repeats	Brain Hippocampus Middle	brain
18	chr5:178384600-178386600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
19	chr5:178384600-178387200	ZNF genes & repeats	Fetal Lung	lung
20	chr5:178384600-178387600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr5:178384600-178388000	ZNF genes & repeats	Adipose Nuclei	Adipose
22	chr5:178384800-178385600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr5:178384800-178386200	Weak transcription	Aorta	Aorta
24	chr5:178384800-178386400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:178384800-178386600	Weak transcription	Fetal Stomach	stomach
26	chr5:178384800-178388600	Weak transcription	Gastric	stomach
27	chr5:178385000-178386400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:178385200-178386400	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr5:178385200-178386400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
30	chr5:178385200-178386400	ZNF genes & repeats	Fetal Kidney	kidney
31	chr5:178385200-178386400	ZNF genes & repeats	Right Ventricle	heart
32	chr5:178385200-178386600	ZNF genes & repeats	Brain Angular Gyrus	brain
33	chr5:178385200-178387600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr5:178385200-178388000	ZNF genes & repeats	Liver	Liver
35	chr5:178385400-178385800	ZNF genes & repeats	Fetal Brain Male	brain
36	chr5:178385400-178386200	Weak transcription	Left Ventricle	heart
37	chr5:178385400-178387400	ZNF genes & repeats	Brain Substantia Nigra	brain
38	chr5:178385600-178388600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
39	chr5:178386000-178386400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:178386200-178387600	ZNF genes & repeats	Aorta	Aorta
41	chr5:178386200-178388200	ZNF genes & repeats	Left Ventricle	heart
42	chr5:178386400-178386600	Weak transcription	Fetal Heart	heart
43	chr5:178386400-178387000	Weak transcription	Stomach Smooth Muscle	stomach
44	chr5:178386400-178388600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr5:178386400-178388600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
46	chr5:178386400-178388800	Weak transcription	Fetal Kidney	kidney
47	chr5:178386400-178389600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr5:178386400-178389800	Weak transcription	Right Ventricle	heart
49	chr5:178386600-178387600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
50	chr5:178386600-178388800	ZNF genes & repeats	Fetal Stomach	stomach

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