Variant report

Variant	esv1810677
Chromosome Location	chr5:42623245-42630968
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:42626104..42628276-chr5:42639236..42641791,2	MCF-7	breast:
2	chr5:42600348..42602106-chr5:42626580..42628400,2	K562	blood:
3	chr5:42491642..42494093-chr5:42621929..42623972,2	MCF-7	breast:

Extended variants
information (count: 251 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4292454	chr5:42623245-42623246	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs537855373	chr5:42623262-42623263	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs372690759	chr5:42623280-42623281	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs143665240	chr5:42623308-42623309	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs187704561	chr5:42623321-42623322	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs112484529	chr5:42623359-42623360	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78139434	chr5:42623436-42623437	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555957507	chr5:42623460-42623461	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs562744482	chr5:42623497-42623498	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs6887528	chr5:42623552-42623553	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs548095662	chr5:42623682-42623683	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs566315415	chr5:42623698-42623699	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs192742638	chr5:42623762-42623763	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541593774	chr5:42623814-42623815	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs184629931	chr5:42623836-42623837	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs537553078	chr5:42623876-42623877	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556077274	chr5:42623882-42623883	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs140655927	chr5:42623912-42623913	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536910267	chr5:42623941-42623942	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7727694	chr5:42623945-42623946	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs532194926	chr5:42623946-42623947	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs573450475	chr5:42624054-42624055	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs150463643	chr5:42624106-42624107	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs189890740	chr5:42624111-42624112	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs4594864	chr5:42624138-42624139	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs544403860	chr5:42624281-42624282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs145405834	chr5:42624315-42624316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541699798	chr5:42624327-42624328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs560062610	chr5:42624356-42624357	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73087443	chr5:42624361-42624362	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs34702852	chr5:42624417-42624418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552307687	chr5:42624487-42624488	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75943985	chr5:42624574-42624575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149229506	chr5:42624644-42624645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs143399097	chr5:42624707-42624708	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs568045705	chr5:42624709-42624710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs535468688	chr5:42624742-42624743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs10640419	chr5:42624748-42624749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34901003	chr5:42624749-42624750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs70991421	chr5:42624751-42624752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76572924	chr5:42624769-42624770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs181579117	chr5:42624782-42624783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7715032	chr5:42624795-42624796	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs534501048	chr5:42624817-42624818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs529382599	chr5:42624855-42624856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547618865	chr5:42624882-42624883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143442641	chr5:42624886-42624887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577383519	chr5:42624978-42624979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375761443	chr5:42625026-42625027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs201661113	chr5:42625035-42625036	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:42610800-42626800	Weak transcription	Pancreas	Pancrea
2	chr5:42615600-42626200	Weak transcription	Aorta	Aorta
3	chr5:42619600-42624200	Genic enhancers	Liver	Liver
4	chr5:42619600-42624400	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:42621200-42624000	Enhancers	Psoas Muscle	Psoas
6	chr5:42621800-42626200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr5:42621800-42629000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr5:42622200-42623800	Enhancers	Primary B cells from cord blood	blood
9	chr5:42622400-42623600	Weak transcription	Colon Smooth Muscle	Colon
10	chr5:42622400-42624200	Weak transcription	Fetal Lung	lung
11	chr5:42622600-42626800	Weak transcription	Ovary	ovary
12	chr5:42622600-42626800	Weak transcription	Right Ventricle	heart
13	chr5:42622600-42627800	Weak transcription	Left Ventricle	heart
14	chr5:42622600-42628800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr5:42622800-42624000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr5:42622800-42631200	Weak transcription	Adipose Nuclei	Adipose
17	chr5:42623000-42626200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr5:42623000-42626600	Weak transcription	Fetal Heart	heart
19	chr5:42623000-42631400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:42623000-42644400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:42623200-42623600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr5:42623200-42624200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr5:42623200-42631400	Weak transcription	Right Atrium	heart
24	chr5:42623600-42623800	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr5:42623600-42624600	Enhancers	Colon Smooth Muscle	Colon
26	chr5:42623800-42632000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr5:42624000-42626400	Weak transcription	Psoas Muscle	Psoas
28	chr5:42624200-42624400	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr5:42624200-42624600	Enhancers	Fetal Lung	lung
30	chr5:42624200-42624600	Enhancers	Stomach Smooth Muscle	stomach
31	chr5:42624200-42626200	Weak transcription	Liver	Liver
32	chr5:42624400-42629400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr5:42624600-42626800	Weak transcription	Colon Smooth Muscle	Colon
34	chr5:42624600-42648000	Weak transcription	Fetal Lung	lung
35	chr5:42626200-42626600	ZNF genes & repeats	Aorta	Aorta
36	chr5:42626200-42626800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:42626200-42627200	Enhancers	Liver	Liver
38	chr5:42626200-42628400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:42626400-42626800	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr5:42626400-42627000	Enhancers	H9 Cell Line	embryonic stem cell
41	chr5:42626400-42627000	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr5:42626400-42627200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:42626400-42627200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr5:42626400-42627200	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr5:42626400-42627200	Enhancers	Psoas Muscle	Psoas
46	chr5:42626600-42626800	Enhancers	Placenta	Placenta
47	chr5:42626600-42627000	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr5:42626600-42627200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr5:42626600-42627200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr5:42626600-42628400	Enhancers	Fetal Heart	heart

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