Variant report

Variant	esv2363439
Chromosome Location	chr5:16738458-16738462
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1 )
Associated
traits (count: 92 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561052266	chr5:16738458-16738459	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
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
Cervical squamous cell carcinoma	21590768	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
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
Multiple myeloma	17550852	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
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	16608533	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	21364760	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Myoepithelioma	18604193	CNVD
Lung cancer	16740712	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Melanoma	22183965	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16730800-16741400	Strong transcription	A549	lung
2	chr5:16730800-16744400	Weak transcription	HSMM	muscle
3	chr5:16734600-16744400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:16734800-16739200	Enhancers	Pancreas	Pancrea
5	chr5:16735000-16738600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:16735000-16738600	Enhancers	Fetal Lung	lung
7	chr5:16735000-16739400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:16735000-16739400	Enhancers	Stomach Mucosa	stomach
9	chr5:16735200-16746600	Weak transcription	HSMMtube	muscle
10	chr5:16736000-16738800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:16736200-16738600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:16736400-16738800	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr5:16736400-16739200	Enhancers	HMEC	breast
14	chr5:16736400-16740200	Weak transcription	Right Ventricle	heart
15	chr5:16736400-16781400	Weak transcription	Esophagus	oesophagus
16	chr5:16736600-16738600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr5:16736600-16738600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr5:16736600-16738800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr5:16736600-16740400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr5:16736800-16738600	Active TSS	H9 Cell Line	embryonic stem cell
21	chr5:16736800-16738600	Active TSS	Brain Germinal Matrix	brain
22	chr5:16736800-16738600	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:16736800-16738800	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr5:16736800-16739200	Enhancers	HUVEC	blood vessel
25	chr5:16736800-16740200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:16736800-16740600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:16736800-16741800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr5:16736800-16756600	Weak transcription	Ovary	ovary
29	chr5:16736800-16758200	Weak transcription	Spleen	Spleen
30	chr5:16736800-16761200	Weak transcription	Hela-S3	cervix
31	chr5:16736800-16761800	Weak transcription	Colonic Mucosa	Colon
32	chr5:16736800-16762400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:16737000-16738600	Active TSS	Fetal Intestine Large	intestine
34	chr5:16737000-16738800	Active TSS	Duodenum Mucosa	Duodenum
35	chr5:16737000-16741600	Weak transcription	NHDF-Ad	bronchial
36	chr5:16737000-16742000	Active TSS	iPS-20b Cell Line	embryonic stem cell
37	chr5:16737000-16742000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr5:16737000-16780400	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr5:16737200-16738600	Enhancers	Gastric	stomach
40	chr5:16737600-16738600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:16737600-16739000	Weak transcription	NHEK	skin
42	chr5:16737600-16739400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr5:16737800-16738600	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:16737800-16738800	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr5:16737800-16739400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr5:16737800-16739400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr5:16737800-16740800	Weak transcription	Fetal Kidney	kidney
48	chr5:16738000-16738600	Enhancers	Fetal Stomach	stomach
49	chr5:16738000-16738800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr5:16738000-16739200	Enhancers	Rectal Mucosa Donor 31	rectum

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