Variant report

Variant	nsv964986
Chromosome Location	chr5:178150596-178151568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373168540	chr5:178150765-178150766	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs62392842	chr5:178150776-178150777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs566637277	chr5:178150799-178150800	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs191198565	chr5:178150800-178150801	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs552391103	chr5:178150801-178150802	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570621794	chr5:178150825-178150826	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs539139622	chr5:178150832-178150833	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs183408304	chr5:178150846-178150847	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs113419183	chr5:178150847-178150848	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs142643812	chr5:178150855-178150856	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs555269028	chr5:178150891-178150892	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs113930217	chr5:178150892-178150893	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs573453149	chr5:178150927-178150928	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs540464652	chr5:178150928-178150929	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs565144545	chr5:178150938-178150939	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs145931055	chr5:178150977-178150978	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs201624613	chr5:178150978-178150979	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs536635518	chr5:178150997-178150998	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs191687424	chr5:178151014-178151015	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs376649164	chr5:178151037-178151038	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs183144828	chr5:178151075-178151076	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs560438566	chr5:178151127-178151128	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs527595532	chr5:178151128-178151129	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs552455155	chr5:178151208-178151209	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570684167	chr5:178151209-178151210	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs371507762	chr5:178151219-178151220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs531500990	chr5:178151270-178151271	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs553674200	chr5:178151277-178151278	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs55818572	chr5:178151286-178151287	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs569233120	chr5:178151305-178151306	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs188127036	chr5:178151311-178151312	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs536695355	chr5:178151342-178151343	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs55774261	chr5:178151343-178151344	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs566816318	chr5:178151350-178151351	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs370238945	chr5:178151380-178151381	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs558797167	chr5:178151388-178151389	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs577037851	chr5:178151453-178151454	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs558849099	chr5:178151468-178151469	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544383815	chr5:178151473-178151474	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs556251563	chr5:178151506-178151507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs192702313	chr5:178151523-178151524	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs184502682	chr5:178151524-178151525	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs529195533	chr5:178151559-178151560	Weak transcription Strong transcription ZNF genes & repeats	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
Breast cancer	21990379	CNVD

Chromatin state (count:179 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178130000-178150600	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr5:178135400-178150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:178135800-178155600	ZNF genes & repeats	Liver	Liver
4	chr5:178136200-178155200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
5	chr5:178136800-178150600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:178136800-178152800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
7	chr5:178137000-178150600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
8	chr5:178137000-178150600	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
9	chr5:178137200-178151000	ZNF genes & repeats	Fetal Brain Female	brain
10	chr5:178137400-178150600	ZNF genes & repeats	Psoas Muscle	Psoas
11	chr5:178138400-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr5:178138600-178150600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:178138600-178150600	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:178138600-178150600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:178138800-178154400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
16	chr5:178138800-178155600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:178139000-178150600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr5:178139000-178150600	ZNF genes & repeats	NHEK	skin
19	chr5:178139000-178154000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
20	chr5:178139200-178150600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
21	chr5:178139200-178150600	ZNF genes & repeats	Left Ventricle	heart
22	chr5:178139200-178150600	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum
23	chr5:178139200-178150600	ZNF genes & repeats	Sigmoid Colon	Sigmoid Colon
24	chr5:178139200-178150800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
25	chr5:178139400-178154800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:178139600-178152800	ZNF genes & repeats	Duodenum Mucosa	Duodenum
27	chr5:178139800-178150600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr5:178139800-178150600	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr5:178139800-178150600	ZNF genes & repeats	Brain Hippocampus Middle	brain
30	chr5:178139800-178150800	Strong transcription	Placenta Amnion	Placenta Amnion
31	chr5:178139800-178151200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr5:178139800-178152600	ZNF genes & repeats	Ovary	ovary
33	chr5:178139800-178153400	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr5:178139800-178153400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
35	chr5:178139800-178154800	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr5:178140000-178150600	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
37	chr5:178140000-178150600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
38	chr5:178140200-178150600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:178140400-178150600	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
40	chr5:178140600-178156600	Weak transcription	Hela-S3	cervix
41	chr5:178140800-178156000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
42	chr5:178141000-178151600	ZNF genes & repeats	Aorta	Aorta
43	chr5:178141000-178155000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr5:178141000-178155200	ZNF genes & repeats	Lung	lung
45	chr5:178141800-178150600	ZNF genes & repeats	Brain Angular Gyrus	brain
46	chr5:178141800-178153800	ZNF genes & repeats	Spleen	Spleen
47	chr5:178141800-178155600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:178142800-178155600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr5:178143200-178154200	ZNF genes & repeats	Gastric	stomach
50	chr5:178144600-178154800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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