Variant report

Variant	esv3487769
Chromosome Location	chr5:42627695-42632143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42631494..42633015-chr5:42639897..42641868,2	K562	blood:
2	chr5:42631158..42633602-chr5:42634414..42636880,2	K562	blood:
3	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
4	chr5:42631954..42633602-chr5:42635380..42637897,2	K562	blood:
5	chr5:42600348..42602106-chr5:42626580..42628400,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:132 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534919411	chr5:42627711-42627712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552864325	chr5:42627725-42627726	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs4355531	chr5:42627747-42627748	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs142918797	chr5:42627764-42627765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115827688	chr5:42627769-42627770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574888649	chr5:42627784-42627785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6870809	chr5:42627838-42627839	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs4523006	chr5:42627892-42627893	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs188938312	chr5:42627955-42627956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs192252652	chr5:42627967-42627968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs151079272	chr5:42627969-42627970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs533605567	chr5:42627979-42627980	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs532077513	chr5:42627987-42627988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551583623	chr5:42628011-42628012	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs139186952	chr5:42628015-42628016	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs4523007	chr5:42628022-42628023	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4357041	chr5:42628028-42628029	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs185384793	chr5:42628048-42628049	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs567685890	chr5:42628128-42628129	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534879710	chr5:42628184-42628185	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546906024	chr5:42628188-42628189	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs549121701	chr5:42628201-42628202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs571332159	chr5:42628297-42628298	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs190668982	chr5:42628318-42628319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4357043	chr5:42628325-42628326	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs574950582	chr5:42628332-42628333	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs180821735	chr5:42628336-42628337	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs141046406	chr5:42628373-42628374	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs572541858	chr5:42628388-42628389	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs373670427	chr5:42628390-42628391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534671699	chr5:42628395-42628396	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs200338483	chr5:42628438-42628439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560043823	chr5:42628444-42628445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372151974	chr5:42628498-42628499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs186271463	chr5:42628521-42628522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545542775	chr5:42628551-42628552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs563876068	chr5:42628556-42628557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530999493	chr5:42628557-42628558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs115397300	chr5:42628605-42628606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs6897405	chr5:42628608-42628609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs528523282	chr5:42628678-42628679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs72754956	chr5:42628690-42628691	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs571555537	chr5:42628693-42628694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188460326	chr5:42628822-42628823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550702522	chr5:42628836-42628837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs568731218	chr5:42628880-42628881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535928762	chr5:42628992-42628993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs369825370	chr5:42629104-42629105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373055838	chr5:42629142-42629143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs143287692	chr5:42629151-42629152	Enhancers 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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42621800-42629000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:42622600-42627800	Weak transcription	Left Ventricle	heart
3	chr5:42622600-42628800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr5:42622800-42631200	Weak transcription	Adipose Nuclei	Adipose
5	chr5:42623000-42631400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr5:42623000-42644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr5:42623200-42631400	Weak transcription	Right Atrium	heart
8	chr5:42623800-42632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr5:42624400-42629400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr5:42624600-42648000	Weak transcription	Fetal Lung	lung
11	chr5:42626200-42628400	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr5:42626600-42628400	Enhancers	Fetal Heart	heart
13	chr5:42626600-42632600	Weak transcription	Aorta	Aorta
14	chr5:42626800-42627800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:42626800-42631600	Weak transcription	Placenta	Placenta
16	chr5:42627200-42627800	Weak transcription	Liver	Liver
17	chr5:42627200-42632200	Weak transcription	Ovary	ovary
18	chr5:42627400-42628200	Enhancers	Right Ventricle	heart
19	chr5:42627600-42628000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:42627600-42628000	Enhancers	Pancreas	Pancrea
21	chr5:42627600-42628400	Enhancers	Psoas Muscle	Psoas
22	chr5:42627800-42628000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr5:42627800-42628200	Enhancers	Left Ventricle	heart
24	chr5:42627800-42628400	Enhancers	Liver	Liver
25	chr5:42628000-42628200	ZNF genes & repeats	Pancreas	Pancrea
26	chr5:42628200-42628400	Enhancers	Pancreas	Pancrea
27	chr5:42628200-42631400	Weak transcription	Left Ventricle	heart
28	chr5:42628400-42628600	Weak transcription	Pancreas	Pancrea
29	chr5:42628400-42630400	Weak transcription	Fetal Heart	heart
30	chr5:42628400-42631400	Weak transcription	Liver	Liver
31	chr5:42628400-42631400	Weak transcription	Psoas Muscle	Psoas
32	chr5:42628400-42631400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:42628400-42632000	Weak transcription	Esophagus	oesophagus
34	chr5:42628800-42629200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr5:42629000-42629800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr5:42629200-42639600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr5:42629400-42629800	Enhancers	Primary B cells from peripheral blood	blood
38	chr5:42629800-42631400	Weak transcription	Primary B cells from peripheral blood	blood
39	chr5:42629800-42637600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:42630400-42634600	Enhancers	Fetal Heart	heart
41	chr5:42631200-42632400	Strong transcription	Adipose Nuclei	Adipose
42	chr5:42631400-42631600	Enhancers	Left Ventricle	heart
43	chr5:42631400-42631600	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr5:42631400-42631600	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr5:42631400-42632800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr5:42631400-42632800	Genic enhancers	Liver	Liver
47	chr5:42631400-42632800	Enhancers	Psoas Muscle	Psoas
48	chr5:42631400-42632800	Enhancers	Right Atrium	heart
49	chr5:42631600-42631800	Enhancers	Primary B cells from peripheral blood	blood
50	chr5:42631600-42632000	Weak transcription	Left Ventricle	heart

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