Variant report

Variant	esv2421516
Chromosome Location	chr5:15719222-15720597
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	chr5:15719277..15719777-chr8:33370846..33371373,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000129696	chromatin interactions
ENSG00000239039	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 95 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4435862	chr5:15719222-15719223	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs562442204	chr5:15719240-15719241	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs529252796	chr5:15719263-15719264	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs554342505	chr5:15719278-15719279	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs200784235	chr5:15719279-15719280	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74365790	chr5:15719285-15719286	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs566058732	chr5:15719324-15719325	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs4374757	chr5:15719350-15719351	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs532204039	chr5:15719369-15719370	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148475244	chr5:15719381-15719382	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569881078	chr5:15719442-15719443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs192121475	chr5:15719462-15719463	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs555351503	chr5:15719472-15719473	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs182577684	chr5:15719590-15719591	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79579493	chr5:15719698-15719699	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs552940761	chr5:15719714-15719715	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs577269137	chr5:15719750-15719751	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs4235554	chr5:15719769-15719770	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs557898754	chr5:15719834-15719835	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs186808800	chr5:15719911-15719912	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs558716378	chr5:15719931-15719932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4702103	chr5:15719942-15719943	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs562242220	chr5:15719946-15719947	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs529634947	chr5:15719994-15719995	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs541027669	chr5:15720062-15720063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs539680589	chr5:15720074-15720075	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs16867615	chr5:15720075-15720076	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs141772016	chr5:15720082-15720083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs191237517	chr5:15720084-15720085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs16867617	chr5:15720106-15720107	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184107030	chr5:15720196-15720197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376874016	chr5:15720201-15720202	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529751795	chr5:15720205-15720206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs534918033	chr5:15720227-15720228	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150592818	chr5:15720253-15720254	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369059490	chr5:15720264-15720265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570923098	chr5:15720311-15720312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs538284001	chr5:15720334-15720335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186935041	chr5:15720335-15720336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77538219	chr5:15720346-15720347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs75396722	chr5:15720366-15720367	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192194904	chr5:15720381-15720382	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs139547443	chr5:15720395-15720396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs144412078	chr5:15720418-15720419	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs563139519	chr5:15720442-15720443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs7709102	chr5:15720451-15720452	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs560123709	chr5:15720473-15720474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs17647886	chr5:15720478-15720479	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs571853332	chr5:15720491-15720492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs563762043	chr5:15720502-15720503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Gastrointestinal stromal cancer	20818650	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
Breast cancer	21364760	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Williams Syndrome	20824207	CNVD
Urothelial carcinoma	21177765	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
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15715200-15720600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr5:15715600-15720400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr5:15715600-15720600	Enhancers	Fetal Heart	heart
4	chr5:15716600-15721000	Enhancers	HUVEC	blood vessel
5	chr5:15716800-15719800	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr5:15717400-15719400	Weak transcription	Right Ventricle	heart
7	chr5:15717400-15720000	Weak transcription	Left Ventricle	heart
8	chr5:15717400-15721400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:15717600-15719800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr5:15717600-15720000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:15717600-15721400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:15717800-15719600	Weak transcription	Colon Smooth Muscle	Colon
13	chr5:15717800-15719800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:15718200-15720800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr5:15718400-15720200	Enhancers	Brain Hippocampus Middle	brain
16	chr5:15718400-15720400	Enhancers	Osteobl	bone
17	chr5:15718600-15719400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:15718600-15719400	Active TSS	Ovary	ovary
19	chr5:15718600-15719600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:15718600-15720000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr5:15718600-15720000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr5:15718800-15719600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr5:15718800-15720200	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr5:15718800-15720200	Enhancers	Brain Cingulate Gyrus	brain
25	chr5:15718800-15720400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr5:15718800-15721600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr5:15719000-15719400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr5:15719000-15720000	Enhancers	Fetal Stomach	stomach
29	chr5:15719000-15720200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr5:15719000-15720400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:15719000-15720400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:15719000-15720400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr5:15719000-15720400	Enhancers	Brain Germinal Matrix	brain
34	chr5:15719000-15720800	Enhancers	Brain Substantia Nigra	brain
35	chr5:15719200-15719600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:15719200-15719600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:15719200-15719600	Weak transcription	Brain Anterior Caudate	brain
38	chr5:15719200-15719800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr5:15719200-15720000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:15719200-15720400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr5:15719200-15720800	Enhancers	NHDF-Ad	bronchial
42	chr5:15719200-15725800	Weak transcription	Fetal Brain Male	brain
43	chr5:15719400-15720400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:15719600-15720000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr5:15719600-15720200	Enhancers	Colon Smooth Muscle	Colon
46	chr5:15719600-15720400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr5:15719600-15720400	Enhancers	Brain Anterior Caudate	brain
48	chr5:15719600-15720800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:15719800-15720000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr5:15719800-15720000	Enhancers	Duodenum Smooth Muscle	Duodenum

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