Variant report

Variant	esv2763864
Chromosome Location	chr5:8701366-8749776
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:63747394..63747975-chr5:8748090..8749028,2	MCF-7	breast:

Extended variants
information (count: 918 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs199998	chr5:8701366-8701367	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs577226896	chr5:8701416-8701417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs576774284	chr5:8701417-8701418	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117177815	chr5:8701432-8701433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36117083	chr5:8701437-8701438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs565427793	chr5:8701478-8701479	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150563287	chr5:8701498-8701499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558391184	chr5:8701538-8701539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs191992552	chr5:8701540-8701541	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs544201055	chr5:8701562-8701563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572769851	chr5:8701563-8701564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs560856155	chr5:8701601-8701602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs529621350	chr5:8701610-8701611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs540201725	chr5:8701617-8701618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549338894	chr5:8701637-8701638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs374146805	chr5:8701640-8701641	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561478197	chr5:8701676-8701677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs562960114	chr5:8701693-8701694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184546868	chr5:8701719-8701720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56834141	chr5:8701734-8701735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76884599	chr5:8701835-8701836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552234681	chr5:8701854-8701855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565857898	chr5:8701865-8701866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189257747	chr5:8701874-8701875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs115318553	chr5:8701894-8701895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544049186	chr5:8701915-8701916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs199997	chr5:8701920-8701921	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs570065951	chr5:8701964-8701965	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs78958607	chr5:8701977-8701978	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs372196983	chr5:8701993-8701994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559030639	chr5:8702000-8702001	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553111124	chr5:8702142-8702143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs572585856	chr5:8702263-8702264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs533107983	chr5:8702265-8702266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541293698	chr5:8702284-8702285	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553559251	chr5:8702310-8702311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs555168500	chr5:8702313-8702314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574162101	chr5:8702357-8702358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115153946	chr5:8702363-8702364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4701817	chr5:8702372-8702373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs560369054	chr5:8702430-8702431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs528505740	chr5:8702475-8702476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs546063197	chr5:8702484-8702485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs199996	chr5:8702492-8702493	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs6875808	chr5:8702522-8702523	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs376812673	chr5:8702523-8702524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181289490	chr5:8702539-8702540	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375139113	chr5:8702549-8702550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs138863446	chr5:8702550-8702551	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530527204	chr5:8702551-8702552	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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8699600-8702200	Enhancers	Fetal Lung	lung
2	chr5:8700000-8701800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr5:8700400-8701600	Enhancers	Fetal Muscle Leg	muscle
4	chr5:8700400-8701600	Enhancers	Ovary	ovary
5	chr5:8700800-8701800	Enhancers	Fetal Stomach	stomach
6	chr5:8701000-8701800	Enhancers	NHLF	lung
7	chr5:8702200-8710600	Weak transcription	Fetal Lung	lung
8	chr5:8710600-8711800	Enhancers	Fetal Lung	lung
9	chr5:8717600-8718000	Active TSS	Right Ventricle	heart
10	chr5:8721000-8722200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr5:8722200-8727200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr5:8723400-8726400	Enhancers	Dnd41	blood
13	chr5:8725400-8730200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr5:8726400-8726600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr5:8726400-8726800	Flanking Active TSS	Dnd41	blood
16	chr5:8726600-8726800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr5:8726600-8727200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:8726600-8728200	Enhancers	Fetal Stomach	stomach
19	chr5:8726800-8727000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr5:8726800-8727400	Enhancers	Dnd41	blood
21	chr5:8727000-8728000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr5:8727200-8727400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr5:8727200-8727600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:8727400-8727800	Active TSS	Osteobl	bone
25	chr5:8727400-8728200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:8727400-8728400	Flanking Active TSS	Dnd41	blood
27	chr5:8727600-8727800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:8727600-8728000	Active TSS	NHDF-Ad	bronchial
29	chr5:8727800-8728000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:8727800-8728200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:8727800-8728200	Flanking Active TSS	Osteobl	bone
32	chr5:8727800-8728400	Enhancers	Fetal Lung	lung
33	chr5:8727800-8728800	Enhancers	NHLF	lung
34	chr5:8728000-8728800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:8728000-8728800	Enhancers	NHDF-Ad	bronchial
36	chr5:8728000-8729000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr5:8728200-8728800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:8728200-8730800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr5:8728200-8730800	Enhancers	Osteobl	bone
40	chr5:8728400-8729400	Enhancers	Dnd41	blood
41	chr5:8728800-8730000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr5:8728800-8730000	Weak transcription	NHDF-Ad	bronchial
43	chr5:8728800-8730000	Weak transcription	NHLF	lung
44	chr5:8728800-8730200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr5:8729000-8730400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:8729000-8730400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:8729400-8730400	Weak transcription	Dnd41	blood
48	chr5:8729800-8730800	Enhancers	NH-A	brain
49	chr5:8730000-8730600	Enhancers	NHDF-Ad	bronchial
50	chr5:8730000-8730800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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