Variant report

Variant	esv2754136
Chromosome Location	chr5:54083387-54107727
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:54098223..54100100-chr5:54101975..54104817,2	MCF-7	breast:
2	chr5:54102068..54104903-chr5:54105238..54107823,3	K562	blood:
3	chr5:54098223..54100100-chr5:54101975..54104817,2	MCF-7	breast:
4	chr5:54102068..54104903-chr5:54105238..54107823,3	K562	blood:

Extended variants
information (count: 925 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:925 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4865870	chr5:54083387-54083388	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs544034315	chr5:54083417-54083418	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10074079	chr5:54083426-54083427	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs565076429	chr5:54083433-54083434	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561237045	chr5:54083448-54083449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs10066485	chr5:54083455-54083456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs540252456	chr5:54083482-54083483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs10075754	chr5:54083557-54083558	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs75460833	chr5:54083564-54083565	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs559383784	chr5:54083604-54083605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs188775496	chr5:54083643-54083644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541444091	chr5:54083712-54083713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563258424	chr5:54083713-54083714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530539866	chr5:54083715-54083716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181541520	chr5:54083717-54083718	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs186831280	chr5:54083737-54083738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528661073	chr5:54083738-54083739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547301914	chr5:54083792-54083793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs568645814	chr5:54083828-54083829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs536111708	chr5:54083860-54083861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191669462	chr5:54083871-54083872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533039045	chr5:54083978-54083979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183864249	chr5:54083981-54083982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs7703792	chr5:54084012-54084013	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs187213237	chr5:54084013-54084014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530657935	chr5:54084021-54084022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540844079	chr5:54084025-54084026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189678566	chr5:54084043-54084044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182354467	chr5:54084079-54084080	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs542076491	chr5:54084081-54084082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563149522	chr5:54084133-54084134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530418155	chr5:54084134-54084135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs545541746	chr5:54084155-54084156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs563819279	chr5:54084163-54084164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs528696681	chr5:54084171-54084172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs4498222	chr5:54084234-54084235	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs568612407	chr5:54084235-54084236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376464352	chr5:54084250-54084251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551215080	chr5:54084276-54084277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569315075	chr5:54084331-54084332	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs567391997	chr5:54084335-54084336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs141270863	chr5:54084382-54084383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558311308	chr5:54084404-54084405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150785860	chr5:54084405-54084406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138108936	chr5:54084427-54084428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552911099	chr5:54084437-54084438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574526344	chr5:54084451-54084452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373802576	chr5:54084484-54084485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541801581	chr5:54084495-54084496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376750185	chr5:54084497-54084498	Weak transcription	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:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54073000-54097600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:54080800-54083400	Enhancers	Primary B cells from cord blood	blood
3	chr5:54081400-54083400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr5:54081400-54083400	Enhancers	Primary B cells from peripheral blood	blood
5	chr5:54081400-54083600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr5:54081600-54083400	Enhancers	Fetal Muscle Leg	muscle
7	chr5:54082000-54088600	Weak transcription	Fetal Stomach	stomach
8	chr5:54082400-54087600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:54082800-54083400	Enhancers	GM12878-XiMat	blood
10	chr5:54083000-54083400	Enhancers	Lung	lung
11	chr5:54083200-54083400	Enhancers	Colonic Mucosa	Colon
12	chr5:54083200-54083600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr5:54083200-54084400	Weak transcription	Left Ventricle	heart
14	chr5:54083200-54088000	Weak transcription	Fetal Heart	heart
15	chr5:54083200-54088800	Weak transcription	Aorta	Aorta
16	chr5:54083400-54087400	Weak transcription	Fetal Muscle Leg	muscle
17	chr5:54087400-54090400	Enhancers	Fetal Muscle Leg	muscle
18	chr5:54087600-54088400	Enhancers	Fetal Muscle Trunk	muscle
19	chr5:54087600-54103600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:54087800-54088800	Weak transcription	Left Ventricle	heart
21	chr5:54087800-54092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr5:54088000-54089600	Enhancers	Fetal Heart	heart
23	chr5:54088200-54089600	Enhancers	HSMMtube	muscle
24	chr5:54088400-54089400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:54088400-54091600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr5:54088400-54091800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:54088600-54090200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:54088600-54090600	Enhancers	Fetal Stomach	stomach
29	chr5:54088600-54091800	Enhancers	Stomach Mucosa	stomach
30	chr5:54088800-54089200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr5:54088800-54089200	Enhancers	Right Ventricle	heart
32	chr5:54088800-54089200	Enhancers	HMEC	breast
33	chr5:54088800-54089200	Enhancers	HSMM	muscle
34	chr5:54088800-54089400	Enhancers	Left Ventricle	heart
35	chr5:54088800-54089600	Enhancers	NHLF	lung
36	chr5:54088800-54090000	Enhancers	Colon Smooth Muscle	Colon
37	chr5:54088800-54090000	Enhancers	Stomach Smooth Muscle	stomach
38	chr5:54088800-54090200	Enhancers	Right Atrium	heart
39	chr5:54088800-54090400	Enhancers	Placenta	Placenta
40	chr5:54088800-54090400	Enhancers	NHDF-Ad	bronchial
41	chr5:54088800-54091000	Enhancers	Aorta	Aorta
42	chr5:54089000-54089400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:54089000-54089400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:54089000-54092000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr5:54089200-54090000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr5:54089400-54090400	Enhancers	Fetal Muscle Trunk	muscle
47	chr5:54089400-54090600	Enhancers	Primary B cells from peripheral blood	blood
48	chr5:54089400-54090800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr5:54089600-54090000	Enhancers	Primary B cells from cord blood	blood
50	chr5:54089600-54090200	Weak transcription	HSMMtube	muscle

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