Variant report

Variant	esv17870
Chromosome Location	chr5:28927599-28932729
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:28931474..28933182-chr5:28934926..28937639,2	K562	blood:
2	chr5:28932061..28932561-chr5:41904130..41905026,2	Hela-S3	cervix:
3	chr5:28932533..28934760-chr5:29193358..29195088,2	K562	blood:

Variant related genes	Relation type
ENSG00000205765	chromatin interactions

Extended variants
information (count: 117 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:117 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs542851454	chr5:28927619-28927620	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs183330812	chr5:28927625-28927626	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs188784939	chr5:28927629-28927630	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs192669723	chr5:28927639-28927640	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs564931571	chr5:28927665-28927666	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs6450663	chr5:28927666-28927667	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs453464	chr5:28927667-28927668	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs565442748	chr5:28927673-28927674	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs534087015	chr5:28927677-28927678	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs451888	chr5:28927687-28927688	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567590896	chr5:28927697-28927698	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs373082027	chr5:28927698-28927699	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs538564332	chr5:28927706-28927707	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs6859100	chr5:28927732-28927733	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs94376	chr5:28927750-28927751	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs138301246	chr5:28927779-28927780	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs554266627	chr5:28927787-28927788	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs572586094	chr5:28927799-28927800	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs78483197	chr5:28927813-28927814	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs561090913	chr5:28927818-28927819	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs94375	chr5:28927899-28927900	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs543743706	chr5:28927908-28927909	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs564724642	chr5:28927920-28927921	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs94374	chr5:28927960-28927961	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs540635011	chr5:28928001-28928002	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs185070271	chr5:28928024-28928025	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs463248	chr5:28928026-28928027	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs549144607	chr5:28928030-28928031	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs567560029	chr5:28928038-28928039	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs531907573	chr5:28928041-28928042	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs550402559	chr5:28928052-28928053	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs7704366	chr5:28928063-28928064	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs538987495	chr5:28928071-28928072	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs554227845	chr5:28928117-28928118	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs374601598	chr5:28928129-28928130	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs566154676	chr5:28928173-28928174	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs536780760	chr5:28928220-28928221	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs188684648	chr5:28928227-28928228	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs458670	chr5:28928229-28928230	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs11744174	chr5:28928261-28928262	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs77125497	chr5:28928304-28928305	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs79574900	chr5:28928306-28928307	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs368785709	chr5:28928307-28928308	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs467378	chr5:28928315-28928316	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs568975752	chr5:28928333-28928334	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs558952655	chr5:28928336-28928337	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs529730879	chr5:28928340-28928341	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs541571848	chr5:28928346-28928347	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs563238945	chr5:28928347-28928348	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs374759545	chr5:28928372-28928373	Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

Disease	PMID	Source
Kartagener syndrome	16639409	CNVD
Medulloblastoma	21979893	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Intellectual disability	22102821	CNVD
Renal cell carcinoma	18194544	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-small cell lung cancer	19010865	CNVD
Glioblastoma multiforme	22286061	CNVD
Compulsive disorder	18923513	CNVD
Epilepsy	18923513	CNVD
Prader-willi syndrome	18923513	CNVD
small cell lung cancer	20016488	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21364760	CNVD
Breast cancer	20409316	CNVD
Medulloblastoma	19270706	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:28927000-28929200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:28927600-28928400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr5:28927600-28928400	Active TSS	Fetal Brain Female	brain
4	chr5:28927600-28928600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:28927600-28928600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
6	chr5:28927600-28928600	Active TSS	NH-A	brain
7	chr5:28927600-28928800	Active TSS	A549	lung
8	chr5:28927800-28928400	Bivalent/Poised TSS	Brain Germinal Matrix	brain
9	chr5:28927800-28928800	Active TSS	Primary hematopoietic stem cells	blood

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