Variant report

Variant	esv3364860
Chromosome Location	chr5:8936001-8950897
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	chr5:8948042..8950890-chr5:8955170..8958329,3	K562	blood:

Extended variants
information (count: 642 )
Associated
traits (count: 107 )

Variant overlapped rSNPs/rCNVs (count:642 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533253816	chr5:8936005-8936006	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs546423221	chr5:8936008-8936009	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs559856785	chr5:8936035-8936036	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs372343259	chr5:8936042-8936043	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs150251888	chr5:8936064-8936065	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs13180198	chr5:8936074-8936075	Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs187176699	chr5:8936097-8936098	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs138903578	chr5:8936112-8936113	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs191873355	chr5:8936118-8936119	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs35295291	chr5:8936128-8936129	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs397884381	chr5:8936131-8936132	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs557318891	chr5:8936141-8936142	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs368577772	chr5:8936142-8936143	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs540112839	chr5:8936153-8936154	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs553622512	chr5:8936156-8936157	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs149394315	chr5:8936166-8936167	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs566969876	chr5:8936189-8936190	Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs182515133	chr5:8936211-8936212	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs549544842	chr5:8936249-8936250	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs116207635	chr5:8936275-8936276	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs187933538	chr5:8936341-8936342	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs10053481	chr5:8936345-8936346	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs2963346	chr5:8936349-8936350	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs193048737	chr5:8936379-8936380	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs138555064	chr5:8936399-8936400	Flanking Active TSS Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs4305619	chr5:8936425-8936426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs141581250	chr5:8936448-8936449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551873820	chr5:8936472-8936473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs34579831	chr5:8936473-8936474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112261077	chr5:8936476-8936477	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185719101	chr5:8936478-8936479	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs368726944	chr5:8936514-8936515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34549606	chr5:8936533-8936534	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562085700	chr5:8936537-8936538	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189479966	chr5:8936538-8936539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4505924	chr5:8936629-8936630	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146180348	chr5:8936672-8936673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376070224	chr5:8936702-8936703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs369374945	chr5:8936762-8936763	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs538285113	chr5:8936773-8936774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200401826	chr5:8936774-8936775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201086176	chr5:8936777-8936778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376035083	chr5:8936778-8936779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13181039	chr5:8936810-8936811	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs532446211	chr5:8936829-8936830	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376799772	chr5:8936850-8936851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13181188	chr5:8936871-8936872	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs538325039	chr5:8936925-8936926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs553831641	chr5:8936993-8936994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138974285	chr5:8936994-8936995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:107)

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
Non-syndromic sensorineural hearing loss	21293372	CNVD
Lung adenocarcinoma	17982442	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:8935600-8936600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:8935600-8936600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:8935800-8936200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr5:8935800-8936400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:8935800-8936400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:8936000-8936400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr5:8936200-8936400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:8936200-8936600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:8936400-8936600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr5:8936400-8937600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:8936600-8941000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:8937400-8937800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr5:8937600-8937800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr5:8937600-8938000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
15	chr5:8941000-8941800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:8941400-8941800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:8941800-8943600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr5:8943400-8943800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr5:8943400-8944200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:8943400-8944200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr5:8943400-8944400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:8943400-8944400	Enhancers	Osteobl	bone
23	chr5:8943400-8944600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:8943400-8944600	Enhancers	NHDF-Ad	bronchial
25	chr5:8943400-8944800	Enhancers	NHLF	lung
26	chr5:8943600-8944000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr5:8943600-8944000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr5:8943600-8944000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr5:8943600-8944000	Enhancers	HMEC	breast
30	chr5:8943600-8944400	Enhancers	NH-A	brain
31	chr5:8943600-8944600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:8943800-8944400	Enhancers	Fetal Lung	lung
33	chr5:8944000-8980400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:8944400-8949800	Weak transcription	Fetal Lung	lung
35	chr5:8946000-8946400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:8949400-8951200	Enhancers	GM12878-XiMat	blood
37	chr5:8949400-8951600	Enhancers	Dnd41	blood
38	chr5:8949800-8951000	Enhancers	Fetal Lung	lung
39	chr5:8950000-8950400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr5:8950400-8953800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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