Variant report

Variant	nsv823356
Chromosome Location	chr5:178389435-178391094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556269727	chr5:178389449-178389450	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs578182865	chr5:178389514-178389515	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs144055504	chr5:178389556-178389557	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs182811446	chr5:178389602-178389603	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116474280	chr5:178389657-178389658	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs372006660	chr5:178389675-178389676	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs185291144	chr5:178389685-178389686	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs573546247	chr5:178389699-178389700	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs540938729	chr5:178389710-178389711	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs565233204	chr5:178389715-178389716	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs954733	chr5:178389793-178389794	ZNF genes & repeats Strong transcription Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557605876	chr5:178389820-178389821	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs553396458	chr5:178389881-178389882	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs144400393	chr5:178389920-178389921	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs574258831	chr5:178389923-178389924	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148763409	chr5:178389932-178389933	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs189651198	chr5:178389962-178389963	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs182331332	chr5:178389964-178389965	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs561810226	chr5:178389980-178389981	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374895325	chr5:178389988-178389989	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs188916122	chr5:178390024-178390025	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs193120161	chr5:178390030-178390031	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs559931187	chr5:178390064-178390065	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs7445876	chr5:178390084-178390085	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs527538973	chr5:178390139-178390140	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs571991168	chr5:178390188-178390189	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs552053602	chr5:178390235-178390236	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs903981	chr5:178390237-178390238	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs142420107	chr5:178390246-178390247	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79628604	chr5:178390269-178390270	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs564257431	chr5:178390329-178390330	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568121229	chr5:178390352-178390353	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs541676794	chr5:178390391-178390392	ZNF genes & repeats Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs1826862	chr5:178390407-178390408	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs555163137	chr5:178390422-178390423	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs150532764	chr5:178390545-178390546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs373207965	chr5:178390568-178390569	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs549634839	chr5:178390580-178390581	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534492876	chr5:178390589-178390590	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs139539604	chr5:178390615-178390616	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376146066	chr5:178390622-178390623	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs577154076	chr5:178390661-178390662	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs563143984	chr5:178390714-178390715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146652232	chr5:178390780-178390781	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs183573871	chr5:178390795-178390796	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529014878	chr5:178390817-178390818	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs562761572	chr5:178390820-178390821	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574842122	chr5:178390821-178390822	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373780250	chr5:178390916-178390917	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs541928808	chr5:178390935-178390936	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:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
2	chr5:178380000-178393600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
3	chr5:178381400-178394200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
4	chr5:178382600-178389800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr5:178383000-178389800	Weak transcription	Pancreas	Pancrea
6	chr5:178383400-178394400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr5:178384400-178395600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:178386400-178389600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:178386400-178389800	Weak transcription	Right Ventricle	heart
10	chr5:178387000-178394200	ZNF genes & repeats	Fetal Muscle Leg	muscle
11	chr5:178387200-178389600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:178387600-178389800	Weak transcription	Aorta	Aorta
13	chr5:178387800-178394400	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:178388600-178389800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:178388600-178390600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:178388800-178389600	Weak transcription	Left Ventricle	heart
17	chr5:178388800-178389800	Strong transcription	Fetal Kidney	kidney
18	chr5:178388800-178389800	Weak transcription	Fetal Stomach	stomach
19	chr5:178388800-178393200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr5:178388800-178397000	ZNF genes & repeats	Brain Anterior Caudate	brain
21	chr5:178388800-178398600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
22	chr5:178389000-178393000	ZNF genes & repeats	Colon Smooth Muscle	Colon
23	chr5:178389000-178394200	ZNF genes & repeats	Fetal Lung	lung
24	chr5:178389000-178394400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:178389000-178398200	ZNF genes & repeats	Brain Hippocampus Middle	brain
26	chr5:178389200-178390400	Active TSS	Right Atrium	heart
27	chr5:178389200-178394000	ZNF genes & repeats	Ovary	ovary
28	chr5:178389200-178394400	ZNF genes & repeats	Stomach Smooth Muscle	stomach
29	chr5:178389200-178394600	ZNF genes & repeats	Brain Substantia Nigra	brain
30	chr5:178389200-178398400	ZNF genes & repeats	Liver	Liver
31	chr5:178389400-178392600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr5:178389400-178400400	ZNF genes & repeats	Adipose Nuclei	Adipose
33	chr5:178389400-178405200	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr5:178389600-178390000	ZNF genes & repeats	Fetal Heart	heart
35	chr5:178389600-178390600	ZNF genes & repeats	Psoas Muscle	Psoas
36	chr5:178389600-178393000	ZNF genes & repeats	Fetal Muscle Trunk	muscle
37	chr5:178389600-178394400	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
38	chr5:178389600-178394400	ZNF genes & repeats	Fetal Brain Male	brain
39	chr5:178389600-178394400	ZNF genes & repeats	Left Ventricle	heart
40	chr5:178389600-178396200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
41	chr5:178389800-178390000	ZNF genes & repeats	Gastric	stomach
42	chr5:178389800-178390400	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
43	chr5:178389800-178390800	ZNF genes & repeats	Rectal Smooth Muscle	rectum
44	chr5:178389800-178392200	ZNF genes & repeats	Aorta	Aorta
45	chr5:178389800-178392600	ZNF genes & repeats	Placenta Amnion	Placenta Amnion
46	chr5:178389800-178392800	ZNF genes & repeats	Pancreas	Pancrea
47	chr5:178389800-178393200	ZNF genes & repeats	Fetal Kidney	kidney
48	chr5:178389800-178394200	ZNF genes & repeats	Right Ventricle	heart
49	chr5:178389800-178398400	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
50	chr5:178389800-178399600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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