Variant report

Variant	nsv328942
Chromosome Location	chr5:178383675-178384407
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11749765	chr5:178383675-178383676	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201021928	chr5:178383676-178383677	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529769952	chr5:178383678-178383679	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs397955242	chr5:178383679-178383680	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs70997652	chr5:178383696-178383697	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187477592	chr5:178383724-178383725	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552223409	chr5:178383729-178383730	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35750616	chr5:178383769-178383770	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11739784	chr5:178383776-178383777	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs11747215	chr5:178383855-178383856	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs183430259	chr5:178383866-178383867	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs386695553	chr5:178383946-178383947	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532535173	chr5:178383953-178383954	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11740462	chr5:178383954-178383955	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs562922323	chr5:178383966-178383967	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530104195	chr5:178383970-178383971	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187585337	chr5:178384060-178384061	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566498775	chr5:178384085-178384086	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs527525832	chr5:178384100-178384101	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192541208	chr5:178384105-178384106	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372829762	chr5:178384120-178384121	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs183837658	chr5:178384162-178384163	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34222514	chr5:178384173-178384174	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537424213	chr5:178384175-178384176	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200877575	chr5:178384177-178384178	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555709237	chr5:178384179-178384180	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187765471	chr5:178384200-178384201	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192600114	chr5:178384219-178384220	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376307972	chr5:178384252-178384253	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576939427	chr5:178384291-178384292	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553880696	chr5:178384294-178384295	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573349116	chr5:178384319-178384320	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs60415675	chr5:178384340-178384341	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397797080	chr5:178384341-178384342	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540865115	chr5:178384343-178384344	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184463106	chr5:178384348-178384349	ZNF genes & repeats Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577585217	chr5:178384404-178384405	ZNF genes & repeats Strong transcription 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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178369000-178384800	ZNF genes & repeats	Fetal Stomach	stomach
2	chr5:178369400-178418200	ZNF genes & repeats	Fetal Brain Female	brain
3	chr5:178373200-178385800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:178375600-178385800	Weak transcription	Osteobl	bone
5	chr5:178379000-178387400	ZNF genes & repeats	Ovary	ovary
6	chr5:178380000-178383800	ZNF genes & repeats	Fetal Muscle Leg	muscle
7	chr5:178380000-178393600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr5:178380800-178384800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:178381000-178384800	ZNF genes & repeats	Aorta	Aorta
10	chr5:178381400-178394200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
11	chr5:178381600-178384800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:178381600-178385400	ZNF genes & repeats	Left Ventricle	heart
13	chr5:178381600-178386600	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr5:178382400-178384200	Weak transcription	Fetal Heart	heart
15	chr5:178382400-178384600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:178382400-178386000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:178382400-178389400	Weak transcription	HSMM	muscle
18	chr5:178382600-178389800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr5:178383000-178384600	Weak transcription	Brain Hippocampus Middle	brain
20	chr5:178383000-178384600	Weak transcription	Gastric	stomach
21	chr5:178383000-178385200	Weak transcription	Brain Anterior Caudate	brain
22	chr5:178383000-178385200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr5:178383000-178385400	Weak transcription	Fetal Brain Male	brain
24	chr5:178383000-178389800	Weak transcription	Pancreas	Pancrea
25	chr5:178383200-178384600	Weak transcription	Stomach Smooth Muscle	stomach
26	chr5:178383400-178384600	Weak transcription	Adipose Nuclei	Adipose
27	chr5:178383400-178384600	Weak transcription	Fetal Lung	lung
28	chr5:178383400-178385200	Weak transcription	Fetal Kidney	kidney
29	chr5:178383400-178394400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:178383600-178384400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:178383600-178384600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:178383600-178385200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr5:178383600-178385200	Weak transcription	Right Ventricle	heart
34	chr5:178384000-178384400	ZNF genes & repeats	Fetal Intestine Large	intestine
35	chr5:178384200-178384400	ZNF genes & repeats	Fetal Heart	heart
36	chr5:178384200-178385000	ZNF genes & repeats	Fetal Muscle Leg	muscle
37	chr5:178384200-178388000	ZNF genes & repeats	Brain Germinal Matrix	brain
38	chr5:178384400-178384800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:178384400-178385600	Weak transcription	Fetal Heart	heart
40	chr5:178384400-178395600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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