Variant report

Variant	esv3487776
Chromosome Location	chr5:42628286-42631253
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	chr5:42600348..42602106-chr5:42626580..42628400,2	K562	blood:
2	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:85 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571332159	chr5:42628297-42628298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs190668982	chr5:42628318-42628319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4357043	chr5:42628325-42628326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs574950582	chr5:42628332-42628333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs180821735	chr5:42628336-42628337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141046406	chr5:42628373-42628374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572541858	chr5:42628388-42628389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373670427	chr5:42628390-42628391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs534671699	chr5:42628395-42628396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs200338483	chr5:42628438-42628439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs560043823	chr5:42628444-42628445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs372151974	chr5:42628498-42628499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs186271463	chr5:42628521-42628522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs545542775	chr5:42628551-42628552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563876068	chr5:42628556-42628557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs530999493	chr5:42628557-42628558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs115397300	chr5:42628605-42628606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs6897405	chr5:42628608-42628609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs528523282	chr5:42628678-42628679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs72754956	chr5:42628690-42628691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs571555537	chr5:42628693-42628694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188460326	chr5:42628822-42628823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550702522	chr5:42628836-42628837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs568731218	chr5:42628880-42628881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs535928762	chr5:42628992-42628993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369825370	chr5:42629104-42629105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373055838	chr5:42629142-42629143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs143287692	chr5:42629151-42629152	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs377297987	chr5:42629167-42629168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs76183160	chr5:42629168-42629169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs121909370	chr5:42629171-42629172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs181298988	chr5:42629188-42629189	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371117905	chr5:42629206-42629207	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs558277834	chr5:42629276-42629277	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs578161633	chr5:42629308-42629309	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545400213	chr5:42629312-42629313	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185523882	chr5:42629322-42629323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575943034	chr5:42629519-42629520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs531022288	chr5:42629567-42629568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs190380365	chr5:42629592-42629593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs141947004	chr5:42629601-42629602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72754957	chr5:42629613-42629614	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs540578073	chr5:42629631-42629632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182890613	chr5:42629682-42629683	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs376777799	chr5:42629730-42629731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs187158825	chr5:42629810-42629811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550475088	chr5:42629837-42629838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35936468	chr5:42629890-42629891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs561446034	chr5:42629916-42629917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528811741	chr5:42629942-42629943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Medulloblastoma	21979893	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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	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
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Cervical squamous cell carcinoma	21590768	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	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	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	21364760	CNVD
Intellectual disability	21811512	CNVD
Lung adenocarcinoma	21935476	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Intracranial aneurysm	16715129	CNVD
Multiple myeloma	16616336	CNVD
Attention deficit hyperactivity disorder	19546859	CNVD

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42621800-42629000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:42622600-42628800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr5:42622800-42631200	Weak transcription	Adipose Nuclei	Adipose
4	chr5:42623000-42631400	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:42623000-42644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr5:42623200-42631400	Weak transcription	Right Atrium	heart
7	chr5:42623800-42632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr5:42624400-42629400	Weak transcription	Primary B cells from peripheral blood	blood
9	chr5:42624600-42648000	Weak transcription	Fetal Lung	lung
10	chr5:42626200-42628400	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr5:42626600-42628400	Enhancers	Fetal Heart	heart
12	chr5:42626600-42632600	Weak transcription	Aorta	Aorta
13	chr5:42626800-42631600	Weak transcription	Placenta	Placenta
14	chr5:42627200-42632200	Weak transcription	Ovary	ovary
15	chr5:42627600-42628400	Enhancers	Psoas Muscle	Psoas
16	chr5:42627800-42628400	Enhancers	Liver	Liver
17	chr5:42628200-42628400	Enhancers	Pancreas	Pancrea
18	chr5:42628200-42631400	Weak transcription	Left Ventricle	heart
19	chr5:42628400-42628600	Weak transcription	Pancreas	Pancrea
20	chr5:42628400-42630400	Weak transcription	Fetal Heart	heart
21	chr5:42628400-42631400	Weak transcription	Liver	Liver
22	chr5:42628400-42631400	Weak transcription	Psoas Muscle	Psoas
23	chr5:42628400-42631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:42628400-42632000	Weak transcription	Esophagus	oesophagus
25	chr5:42628800-42629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr5:42629000-42629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:42629200-42639600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr5:42629400-42629800	Enhancers	Primary B cells from peripheral blood	blood
29	chr5:42629800-42631400	Weak transcription	Primary B cells from peripheral blood	blood
30	chr5:42629800-42637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:42630400-42634600	Enhancers	Fetal Heart	heart
32	chr5:42631200-42632400	Strong transcription	Adipose Nuclei	Adipose

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