Variant report

Variant	esv3329846
Chromosome Location	chr5:51919244-51946525
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	chr5:51941239..51944120-chr5:51944580..51946386,2	MCF-7	breast:
2	chr5:51941239..51944120-chr5:51944580..51946386,2	MCF-7	breast:

Extended variants
information (count: 205 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:205 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs193053195	chr5:51926609-51926610	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531970035	chr5:51926611-51926612	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs149184427	chr5:51926617-51926618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546565792	chr5:51926663-51926664	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10072067	chr5:51926677-51926678	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs114347500	chr5:51926712-51926713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547913888	chr5:51926714-51926715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184043060	chr5:51926717-51926718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188487932	chr5:51926720-51926721	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs76632385	chr5:51926759-51926760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs114081440	chr5:51926775-51926776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs137860052	chr5:51937002-51937003	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs376753637	chr5:51937019-51937020	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs142675648	chr5:51937020-51937021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs556425455	chr5:51937031-51937032	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs181489494	chr5:51937052-51937053	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs370042436	chr5:51937073-51937074	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs186495709	chr5:51937096-51937097	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs553777905	chr5:51937133-51937134	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs572193629	chr5:51937194-51937195	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs189757034	chr5:51937199-51937200	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs561322455	chr5:51937216-51937217	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs76087188	chr5:51937234-51937235	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs543719453	chr5:51937249-51937250	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs57867049	chr5:51937282-51937283	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs75777399	chr5:51937285-51937286	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565590166	chr5:51937297-51937298	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs398050428	chr5:51937299-51937300	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs397701903	chr5:51937301-51937302	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs199714212	chr5:51937302-51937303	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs371336285	chr5:51937306-51937307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs532926413	chr5:51937321-51937322	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs551371490	chr5:51937322-51937323	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs566506381	chr5:51937342-51937343	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs376669699	chr5:51937348-51937349	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs144849416	chr5:51937395-51937396	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs138696596	chr5:51937400-51937401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs181070587	chr5:51937453-51937454	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs372308249	chr5:51937462-51937463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs538054692	chr5:51937463-51937464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs374686337	chr5:51937477-51937478	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556149759	chr5:51937481-51937482	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs75867564	chr5:51937482-51937483	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs569689818	chr5:51937534-51937535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs538583219	chr5:51937574-51937575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs78413150	chr5:51937580-51937581	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62358697	chr5:51939200-51939201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191312680	chr5:51939206-51939207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140773865	chr5:51939222-51939223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534367069	chr5:51939278-51939279	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
Chronic lymphocytic leukemia	21546498	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	18641027	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

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:51926600-51926800	Enhancers	Spleen	Spleen
2	chr5:51937000-51937600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:51939200-51939400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:51940600-51941400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:51942200-51942400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:51942200-51942800	Enhancers	Dnd41	blood
7	chr5:51943800-51944400	Enhancers	Brain Hippocampus Middle	brain
8	chr5:51943800-51945000	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr5:51944400-51944800	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr5:51944400-51944800	Active TSS	Brain Anterior Caudate	brain
11	chr5:51944400-51944800	Active TSS	Brain Hippocampus Middle	brain
12	chr5:51944400-51945200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr5:51944600-51944800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:51944600-51945000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr5:51944600-51945000	Active TSS	Brain Angular Gyrus	brain
16	chr5:51944800-51945200	Enhancers	Brain Hippocampus Middle	brain
17	chr5:51945000-51946400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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