Variant report

Variant	nsv968974
Chromosome Location	chr5:108385517-108387999
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 119 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114076333	chr5:108385531-108385532	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555311622	chr5:108385554-108385555	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573578235	chr5:108385557-108385558	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs7725374	chr5:108385609-108385610	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550746336	chr5:108385642-108385643	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567603614	chr5:108385645-108385646	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7725553	chr5:108385743-108385744	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7725412	chr5:108385782-108385783	Weak transcription Enhancers Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370454950	chr5:108385807-108385808	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543173870	chr5:108385811-108385812	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs7725708	chr5:108385826-108385827	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7725718	chr5:108385841-108385842	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs113935095	chr5:108385873-108385874	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs139268925	chr5:108385882-108385883	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs368645196	chr5:108385883-108385884	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs57413180	chr5:108385898-108385899	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs397943766	chr5:108385906-108385907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7725459	chr5:108385910-108385911	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7707879	chr5:108385939-108385940	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191924126	chr5:108385961-108385962	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575290057	chr5:108385963-108385964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs569413678	chr5:108385981-108385982	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374331351	chr5:108386012-108386013	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544246963	chr5:108386034-108386035	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs10447249	chr5:108386035-108386036	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs527751340	chr5:108386057-108386058	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs183032684	chr5:108386067-108386068	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149912356	chr5:108386068-108386069	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs542938146	chr5:108386085-108386086	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs559650508	chr5:108386092-108386093	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs117329696	chr5:108386109-108386110	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs545238611	chr5:108386149-108386150	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144945467	chr5:108386261-108386262	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs549230971	chr5:108386266-108386267	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs187602470	chr5:108386285-108386286	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191119357	chr5:108386335-108386336	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs567574109	chr5:108386337-108386338	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372627185	chr5:108386362-108386363	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182576918	chr5:108386366-108386367	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149043833	chr5:108386390-108386391	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs143033120	chr5:108386416-108386417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561458834	chr5:108386435-108386436	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs186905802	chr5:108386452-108386453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147759648	chr5:108386480-108386481	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568990723	chr5:108386486-108386487	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs537563059	chr5:108386504-108386505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554624069	chr5:108386525-108386526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375844093	chr5:108386618-108386619	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs17534396	chr5:108386660-108386661	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs550186933	chr5:108386703-108386704	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	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
Breast cancer	21858162	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
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	21509527	CNVD
Breast cancer	16608533	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	16773561	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intellectual disability	21811512	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:108350800-108390400	Weak transcription	HSMMtube	muscle
2	chr5:108356000-108399000	Weak transcription	HSMM	muscle
3	chr5:108356400-108389200	Weak transcription	Primary B cells from cord blood	blood
4	chr5:108360400-108389000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr5:108360400-108389400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr5:108360400-108389600	Weak transcription	Brain Angular Gyrus	brain
7	chr5:108360400-108389800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:108360400-108389800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr5:108360400-108400400	Weak transcription	NHEK	skin
10	chr5:108360400-108404800	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:108360400-108425200	Weak transcription	Aorta	Aorta
12	chr5:108365600-108389400	Weak transcription	HepG2	liver
13	chr5:108366600-108387200	Weak transcription	GM12878-XiMat	blood
14	chr5:108367000-108387000	Weak transcription	Left Ventricle	heart
15	chr5:108368800-108387400	Weak transcription	Pancreas	Pancrea
16	chr5:108371200-108387400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr5:108371600-108387600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:108372600-108389800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr5:108373600-108387000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:108374000-108388600	Weak transcription	Fetal Kidney	kidney
21	chr5:108374000-108388800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr5:108374800-108390000	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr5:108376000-108390000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr5:108376400-108389000	Weak transcription	Primary T cells from cord blood	blood
25	chr5:108376400-108392600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:108377000-108399000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr5:108377400-108389000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:108380000-108387000	Weak transcription	Fetal Muscle Leg	muscle
29	chr5:108380000-108389200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:108380000-108391200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr5:108380400-108389000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr5:108381000-108388400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:108381000-108389400	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr5:108381400-108387200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:108381400-108387400	Weak transcription	Right Ventricle	heart
36	chr5:108381400-108387400	Weak transcription	Dnd41	blood
37	chr5:108381400-108387600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr5:108381400-108389800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:108381600-108387200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:108381600-108387200	Weak transcription	Ovary	ovary
41	chr5:108381800-108387200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr5:108381800-108387400	Weak transcription	Adipose Nuclei	Adipose
43	chr5:108381800-108388600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr5:108382000-108389800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr5:108382400-108389000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr5:108382800-108387000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr5:108383200-108387000	Weak transcription	Liver	Liver
48	chr5:108383400-108387600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr5:108383600-108389600	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr5:108384800-108386200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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