Variant report

Variant	esv1798195
Chromosome Location	chr5:8702522-8747142
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 827 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:827 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6875808	chr5:8702522-8702523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs376812673	chr5:8702523-8702524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181289490	chr5:8702539-8702540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375139113	chr5:8702549-8702550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138863446	chr5:8702550-8702551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs530527204	chr5:8702551-8702552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs7702803	chr5:8702555-8702556	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs35547465	chr5:8702573-8702574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186498970	chr5:8702579-8702580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550342395	chr5:8702596-8702597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs60422362	chr5:8702605-8702606	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs376045912	chr5:8702610-8702611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs55779915	chr5:8702612-8702613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs386685289	chr5:8702618-8702619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs559184528	chr5:8702619-8702620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs569484073	chr5:8702626-8702627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186131857	chr5:8702635-8702636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190935557	chr5:8702637-8702638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs172044	chr5:8702638-8702639	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182732014	chr5:8702642-8702643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs543103593	chr5:8702643-8702644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112132872	chr5:8702649-8702650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576406541	chr5:8702650-8702651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190624092	chr5:8702658-8702659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559313616	chr5:8702670-8702671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557559950	chr5:8702679-8702680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs528332174	chr5:8702681-8702682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs567135541	chr5:8702694-8702695	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs111747810	chr5:8702701-8702702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs376117192	chr5:8702703-8702704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs561859249	chr5:8702705-8702706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188062221	chr5:8702706-8702707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs192580974	chr5:8702707-8702708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs386685290	chr5:8702712-8702713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs375774881	chr5:8702714-8702715	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369985525	chr5:8702718-8702719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563587571	chr5:8702723-8702724	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs543911006	chr5:8702732-8702733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs368150134	chr5:8702733-8702734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35290725	chr5:8702737-8702738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370335241	chr5:8702746-8702747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs182606542	chr5:8702747-8702748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs565212869	chr5:8702750-8702751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs367757488	chr5:8702757-8702758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111365752	chr5:8702758-8702759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113551024	chr5:8702761-8702762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372410795	chr5:8702762-8702763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34938315	chr5:8702763-8702764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539526635	chr5:8702764-8702765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560223390	chr5:8702767-8702768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Sudden cardiac death	19188705	CNVD
renal disease	17924346	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
abnormal development	18461090	CNVD
Lung cancer	19547694	CNVD
Cri-du chat syndrome	22283845	CNVD
Disorders of sex development	21048976	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Honadal dysgenesis	21048976	CNVD
Cancer	16751803	CNVD
Breast cancer	17133270	CNVD
Hepatocellular carcinoma	22174799	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Salivary gland tumor	18059337	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Multiple myeloma	17550852	CNVD
Developmental delay	21147756	CNVD
prenatal diagnosis	22389664	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Breast cancer	21858162	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Melanoma	22183965	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Urothelial carcinoma	21177765	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Ovarian cancer	19193619	CNVD
Hepatocellular carcinoma	16785998	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Intellectual disability	22102821	CNVD
Myelofibrosis	22110671	CNVD
Cri-du chat syndrome	16773131	CNVD
Cryptorchidism	21048976	CNVD
Glioblastoma multiforme	22286061	CNVD
Cervical cancer	16585170	CNVD
Mental retardation	16773131	CNVD
Non-small cell lung cancer	21829676	CNVD
Cri-du chat syndrome	22470819	CNVD
sporadic birth defects	19047251	CNVD

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8702200-8710600	Weak transcription	Fetal Lung	lung
2	chr5:8710600-8711800	Enhancers	Fetal Lung	lung
3	chr5:8717600-8718000	Active TSS	Right Ventricle	heart
4	chr5:8721000-8722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr5:8722200-8727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:8723400-8726400	Enhancers	Dnd41	blood
7	chr5:8725400-8730200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr5:8726400-8726600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr5:8726400-8726800	Flanking Active TSS	Dnd41	blood
10	chr5:8726600-8726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:8726600-8727200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr5:8726600-8728200	Enhancers	Fetal Stomach	stomach
13	chr5:8726800-8727000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:8726800-8727400	Enhancers	Dnd41	blood
15	chr5:8727000-8728000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:8727200-8727400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:8727200-8727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:8727400-8727800	Active TSS	Osteobl	bone
19	chr5:8727400-8728200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:8727400-8728400	Flanking Active TSS	Dnd41	blood
21	chr5:8727600-8727800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:8727600-8728000	Active TSS	NHDF-Ad	bronchial
23	chr5:8727800-8728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:8727800-8728200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr5:8727800-8728200	Flanking Active TSS	Osteobl	bone
26	chr5:8727800-8728400	Enhancers	Fetal Lung	lung
27	chr5:8727800-8728800	Enhancers	NHLF	lung
28	chr5:8728000-8728800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr5:8728000-8728800	Enhancers	NHDF-Ad	bronchial
30	chr5:8728000-8729000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:8728200-8728800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:8728200-8730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr5:8728200-8730800	Enhancers	Osteobl	bone
34	chr5:8728400-8729400	Enhancers	Dnd41	blood
35	chr5:8728800-8730000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr5:8728800-8730000	Weak transcription	NHDF-Ad	bronchial
37	chr5:8728800-8730000	Weak transcription	NHLF	lung
38	chr5:8728800-8730200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr5:8729000-8730400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr5:8729000-8730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:8729400-8730400	Weak transcription	Dnd41	blood
42	chr5:8729800-8730800	Enhancers	NH-A	brain
43	chr5:8730000-8730600	Enhancers	NHDF-Ad	bronchial
44	chr5:8730000-8730800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:8730000-8730800	Enhancers	NHLF	lung
46	chr5:8730200-8730600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr5:8730200-8731200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr5:8730400-8730600	ZNF genes & repeats	Dnd41	blood

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