Variant report

Variant	esv1830196
Chromosome Location	chr5:61512352-61548378
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:61539663..61541258-chr5:61560288..61563274,2	K562	blood:
2	chr5:61541758..61543641-chr5:61554002..61556238,2	K562	blood:
3	chr5:61513831..61515618-chr5:61821739..61824122,2	K562	blood:
4	chr5:61520015..61520644-chr5:61649667..61650292,2	MCF-7	breast:
5	chr5:61501169..61503856-chr5:61511488..61513182,2	K562	blood:
6	chr5:61519364..61519935-chr5:61649639..61650264,2	MCF-7	breast:
7	chr5:61539494..61542163-chr5:61560247..61562435,2	K562	blood:

Extended variants
information (count: 1398 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1398 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368214480	chr5:61512363-61512364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs146741640	chr5:61512380-61512381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186687157	chr5:61512387-61512388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs4038053	chr5:61512402-61512403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200245885	chr5:61512412-61512413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4038052	chr5:61512464-61512465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs4038065	chr5:61512510-61512511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369615658	chr5:61512513-61512514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529805748	chr5:61512523-61512524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs557192071	chr5:61512546-61512547	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4038064	chr5:61512565-61512566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs192086636	chr5:61512618-61512619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184118775	chr5:61512622-61512623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs73760577	chr5:61512657-61512658	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs62365264	chr5:61512661-61512662	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
16	rs4038063	chr5:61512666-61512667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551735266	chr5:61512672-61512673	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs565579382	chr5:61512692-61512693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188673494	chr5:61512741-61512742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs1820123	chr5:61512790-61512791	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1820122	chr5:61512793-61512794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs377497747	chr5:61512794-61512795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs193159512	chr5:61512801-61512802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs72767057	chr5:61512833-61512834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs12521969	chr5:61512846-61512847	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs537605228	chr5:61512877-61512878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs376002430	chr5:61512882-61512883	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs557619889	chr5:61512899-61512900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs572958572	chr5:61512914-61512915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs539983450	chr5:61512950-61512951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553324941	chr5:61512954-61512955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs573116572	chr5:61513001-61513002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs61212542	chr5:61513042-61513043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554829902	chr5:61513082-61513083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs377371581	chr5:61513092-61513093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370325160	chr5:61513126-61513127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs187168157	chr5:61513132-61513133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs375514042	chr5:61513176-61513177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191670169	chr5:61513188-61513189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs183724743	chr5:61513197-61513198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188215686	chr5:61513245-61513246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs56103269	chr5:61513305-61513306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs180761210	chr5:61513307-61513308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545450699	chr5:61513350-61513351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185695900	chr5:61513357-61513358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs1895392	chr5:61513405-61513406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190219739	chr5:61513443-61513444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs528047320	chr5:61513449-61513450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375130012	chr5:61513457-61513458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4122299	chr5:61513472-61513473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
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
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Hepatocellular carcinoma	16750200	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:247 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61512000-61517800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:61513600-61514400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:61514200-61515000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:61515400-61515800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:61517400-61518400	Enhancers	Fetal Intestine Small	intestine
6	chr5:61517400-61519000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr5:61517600-61518000	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
8	chr5:61517600-61518200	Enhancers	Fetal Intestine Large	intestine
9	chr5:61517600-61518600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr5:61517800-61518000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:61517800-61518000	Enhancers	K562	blood
12	chr5:61517800-61518000	Enhancers	NHDF-Ad	bronchial
13	chr5:61517800-61518000	Enhancers	Osteobl	bone
14	chr5:61517800-61518200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:61517800-61519200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:61518000-61518200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:61518000-61518200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:61518000-61519200	Enhancers	Muscle Satellite Cultured Cells	--
19	chr5:61518200-61518400	Enhancers	HepG2	liver
20	chr5:61518200-61518600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr5:61518200-61518800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:61518400-61519600	Weak transcription	Fetal Intestine Small	intestine
23	chr5:61518400-61519800	Weak transcription	K562	blood
24	chr5:61518600-61518800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:61518600-61519400	Enhancers	Osteobl	bone
26	chr5:61518600-61519800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:61518800-61519000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:61518800-61519400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:61519000-61519200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr5:61519000-61519200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:61519000-61519400	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr5:61519000-61520000	Weak transcription	HepG2	liver
33	chr5:61519200-61519400	Enhancers	Primary B cells from peripheral blood	blood
34	chr5:61519200-61519800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:61519200-61520000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr5:61519200-61520000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:61519200-61520200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:61519400-61519600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr5:61519400-61519800	Active TSS	Primary monocytes fromperipheralblood	blood
40	chr5:61519400-61519800	Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr5:61519400-61519800	Active TSS	Primary B cells from peripheral blood	blood
42	chr5:61519400-61519800	Active TSS	Primary T cells fromperipheralblood	blood
43	chr5:61519400-61519800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:61519400-61519800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr5:61519400-61519800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:61519400-61519800	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr5:61519400-61519800	Active TSS	Adipose Nuclei	Adipose
48	chr5:61519400-61519800	Active TSS	Brain Hippocampus Middle	brain
49	chr5:61519400-61519800	Active TSS	Fetal Muscle Leg	muscle
50	chr5:61519400-61520000	Active TSS	Primary T cells from cord blood	blood

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