Variant report

Variant	nsv980769
Chromosome Location	chr5:178373307-178373932
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200671432	chr5:178373312-178373313	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs56954828	chr5:178373319-178373320	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs151123034	chr5:178373344-178373345	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs377407023	chr5:178373384-178373385	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370159159	chr5:178373395-178373396	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376082280	chr5:178373408-178373409	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs139308434	chr5:178373425-178373426	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs74894989	chr5:178373452-178373453	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs202005374	chr5:178373491-178373492	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374040498	chr5:178373521-178373522	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182869766	chr5:178373534-178373535	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs74481857	chr5:178373539-178373540	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542937529	chr5:178373546-178373547	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141034178	chr5:178373569-178373570	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs528051002	chr5:178373587-178373588	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs546589970	chr5:178373626-178373627	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564799233	chr5:178373676-178373677	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77877032	chr5:178373722-178373723	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532213194	chr5:178373727-178373728	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550439046	chr5:178373728-178373729	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs569906002	chr5:178373819-178373820	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368089922	chr5:178373855-178373856	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571680687	chr5:178373867-178373868	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs370453069	chr5:178373874-178373875	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs375346887	chr5:178373919-178373920	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

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

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178353800-178374800	ZNF genes & repeats	Liver	Liver
2	chr5:178367000-178374600	ZNF genes & repeats	Spleen	Spleen
3	chr5:178368800-178377000	Weak transcription	Psoas Muscle	Psoas
4	chr5:178369000-178373800	Weak transcription	Brain Substantia Nigra	brain
5	chr5:178369000-178374000	Weak transcription	Osteobl	bone
6	chr5:178369000-178374400	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
7	chr5:178369000-178378400	Weak transcription	NHDF-Ad	bronchial
8	chr5:178369000-178378800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr5:178369000-178380200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:178369000-178384800	ZNF genes & repeats	Fetal Stomach	stomach
11	chr5:178369400-178374800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
13	chr5:178369600-178373600	ZNF genes & repeats	Brain Germinal Matrix	brain
14	chr5:178369600-178374400	Strong transcription	Stomach Smooth Muscle	stomach
15	chr5:178369600-178377400	Strong transcription	Fetal Muscle Trunk	muscle
16	chr5:178369800-178373600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr5:178370000-178376200	Weak transcription	Placenta	Placenta
18	chr5:178370000-178378400	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:178370200-178374200	Strong transcription	Brain Anterior Caudate	brain
20	chr5:178371000-178376000	Strong transcription	Fetal Muscle Leg	muscle
21	chr5:178371000-178376000	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr5:178371200-178373600	ZNF genes & repeats	Brain Hippocampus Middle	brain
23	chr5:178371200-178374200	Strong transcription	Brain Angular Gyrus	brain
24	chr5:178371200-178374800	Strong transcription	Brain Cingulate Gyrus	brain
25	chr5:178371200-178375800	ZNF genes & repeats	Aorta	Aorta
26	chr5:178371200-178379200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
27	chr5:178371400-178375800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:178371600-178375600	ZNF genes & repeats	Esophagus	oesophagus
29	chr5:178371800-178373400	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
30	chr5:178371800-178373400	ZNF genes & repeats	Fetal Intestine Large	intestine
31	chr5:178371800-178378000	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr5:178372200-178374600	ZNF genes & repeats	Lung	lung
33	chr5:178372200-178375600	Strong transcription	Right Ventricle	heart
34	chr5:178372400-178374600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr5:178372400-178374800	ZNF genes & repeats	Gastric	stomach
36	chr5:178372400-178375800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:178372400-178375800	ZNF genes & repeats	Adipose Nuclei	Adipose
38	chr5:178372400-178376400	ZNF genes & repeats	Pancreas	Pancrea
39	chr5:178372600-178374200	Strong transcription	Left Ventricle	heart
40	chr5:178372600-178374600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr5:178372600-178375600	ZNF genes & repeats	Brain Dorsolateral Prefrontal Cortex	brain
42	chr5:178372600-178377400	Weak transcription	Fetal Heart	heart
43	chr5:178372800-178374000	Weak transcription	Fetal Kidney	kidney
44	chr5:178372800-178374200	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr5:178372800-178374400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:178372800-178375600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:178372800-178375600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:178373000-178373800	Weak transcription	Fetal Brain Male	brain
49	chr5:178373000-178374200	Strong transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:178373000-178374600	Strong transcription	Colon Smooth Muscle	Colon

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