Variant report

Variant	esv3511669
Chromosome Location	chr5:16698721-16699047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 89 )

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369809855	chr5:16698726-16698727	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs534800370	chr5:16698732-16698733	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs368225825	chr5:16698733-16698734	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs5866202	chr5:16698741-16698742	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs386685851	chr5:16698772-16698773	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs370995961	chr5:16698778-16698779	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs154287	chr5:16698783-16698784	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs189671535	chr5:16698789-16698790	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs576744990	chr5:16698796-16698797	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs377417784	chr5:16698818-16698819	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs562349121	chr5:16698833-16698834	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs181761153	chr5:16698882-16698883	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557211018	chr5:16698905-16698906	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs111325613	chr5:16698926-16698927	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs559892836	chr5:16698937-16698938	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs185146661	chr5:16698979-16698980	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs190475424	chr5:16698984-16698985	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs571934456	chr5:16699012-16699013	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs181980296	chr5:16699024-16699025	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs370970015	chr5:16699031-16699032	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs551148018	chr5:16699039-16699040	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:89)

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

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
6	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
12	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
13	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
14	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:16679600-16701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr5:16681000-16699200	Weak transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:16681400-16701000	Weak transcription	Colonic Mucosa	Colon
18	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
19	chr5:16682400-16699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:16683200-16701000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr5:16683800-16707200	Weak transcription	Liver	Liver
23	chr5:16684200-16700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:16684600-16701200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
28	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr5:16690200-16699200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
32	chr5:16691800-16699200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr5:16692000-16702000	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr5:16694200-16699200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:16694600-16699000	Weak transcription	A549	lung
36	chr5:16694600-16699200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr5:16694800-16699000	Weak transcription	Brain Anterior Caudate	brain
38	chr5:16694800-16699000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr5:16694800-16699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr5:16694800-16699200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:16694800-16699200	Weak transcription	NHDF-Ad	bronchial
42	chr5:16694800-16699200	Weak transcription	NHLF	lung
43	chr5:16694800-16699600	Weak transcription	Esophagus	oesophagus
44	chr5:16694800-16701000	Weak transcription	Adipose Nuclei	Adipose
45	chr5:16695000-16698800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr5:16695000-16699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr5:16695000-16699000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:16695000-16699000	Weak transcription	Brain Angular Gyrus	brain
49	chr5:16695000-16699000	Weak transcription	Ovary	ovary
50	chr5:16695000-16699000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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