Variant report

Variant	esv19821
Chromosome Location	chr5:54103757-54104736
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	chr5:54098223..54100100-chr5:54101975..54104817,2	MCF-7	breast:
2	chr5:54102068..54104903-chr5:54105238..54107823,3	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371426572	chr5:54103797-54103798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs569636245	chr5:54103810-54103811	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547175864	chr5:54103889-54103890	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs9687636	chr5:54103890-54103891	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs550791283	chr5:54103892-54103893	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115426142	chr5:54103923-54103924	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530601231	chr5:54103926-54103927	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551916814	chr5:54103950-54103951	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570433451	chr5:54103976-54103977	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs114539592	chr5:54103984-54103985	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188272039	chr5:54104082-54104083	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567953543	chr5:54104094-54104095	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs535565676	chr5:54104128-54104129	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556765699	chr5:54104151-54104152	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs575266640	chr5:54104195-54104196	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540061217	chr5:54104198-54104199	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs370802272	chr5:54104219-54104220	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs569590883	chr5:54104229-54104230	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573590396	chr5:54104259-54104260	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs75648454	chr5:54104266-54104267	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs562161908	chr5:54104268-54104269	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193171863	chr5:54104275-54104276	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs79304761	chr5:54104361-54104362	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536644752	chr5:54104383-54104384	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562855239	chr5:54104389-54104390	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185501659	chr5:54104413-54104414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149040719	chr5:54104482-54104483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs551955469	chr5:54104504-54104505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189172388	chr5:54104513-54104514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10058571	chr5:54104560-54104561	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs539818545	chr5:54104578-54104579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs574399930	chr5:54104595-54104596	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs142767112	chr5:54104606-54104607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs144266589	chr5:54104617-54104618	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10940428	chr5:54104649-54104650	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs13173669	chr5:54104686-54104687	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73755298	chr5:54104695-54104696	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs539497269	chr5:54104733-54104734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	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
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54102200-54103800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:54102200-54103800	Weak transcription	Lung	lung
3	chr5:54103200-54103800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:54103200-54103800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:54103200-54103800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:54103200-54103800	Enhancers	Osteobl	bone
7	chr5:54103200-54104000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:54103200-54104000	Enhancers	Fetal Intestine Small	intestine
9	chr5:54103200-54104000	Enhancers	HMEC	breast
10	chr5:54103200-54104000	Enhancers	NHDF-Ad	bronchial
11	chr5:54103200-54104000	Enhancers	NHEK	skin
12	chr5:54103200-54104200	Enhancers	Stomach Mucosa	stomach
13	chr5:54103200-54104200	Enhancers	Hela-S3	cervix
14	chr5:54103200-54104200	Enhancers	NHLF	lung
15	chr5:54103200-54104600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:54103200-54104800	Enhancers	HUVEC	blood vessel
17	chr5:54103400-54103800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr5:54103400-54103800	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr5:54103400-54103800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr5:54103400-54103800	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr5:54103400-54104000	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:54103400-54104000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr5:54103400-54104000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr5:54103600-54103800	Enhancers	Fetal Heart	heart
25	chr5:54103600-54103800	Enhancers	Fetal Kidney	kidney
26	chr5:54103600-54104000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr5:54103600-54104000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:54103600-54104000	Enhancers	Aorta	Aorta
29	chr5:54103600-54104000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr5:54103600-54104000	Enhancers	Fetal Intestine Large	intestine
31	chr5:54103600-54104000	Enhancers	NH-A	brain
32	chr5:54103600-54104200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:54103600-54104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr5:54103600-54104200	Enhancers	Placenta	Placenta
35	chr5:54103800-54104400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:54103800-54104400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr5:54103800-54104400	Enhancers	Lung	lung
38	chr5:54103800-54104800	Enhancers	Pancreas	Pancrea
39	chr5:54103800-54108200	Weak transcription	Fetal Heart	heart
40	chr5:54104000-54104400	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr5:54104000-54104400	Enhancers	Gastric	stomach
42	chr5:54104400-54108600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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