Variant report

Variant	esv3337828
Chromosome Location	chr5:61525595-61528393
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 92 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:92 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs113253793	chr5:61525658-61525659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557750228	chr5:61525667-61525668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs542904774	chr5:61525748-61525749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs562821764	chr5:61525768-61525769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28877127	chr5:61525807-61525808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200536425	chr5:61525827-61525828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs550186073	chr5:61525840-61525841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545219646	chr5:61525847-61525848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201476854	chr5:61525865-61525866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564804958	chr5:61525876-61525877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527431461	chr5:61525877-61525878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs189425919	chr5:61525896-61525897	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs529642880	chr5:61525968-61525969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs10050584	chr5:61526000-61526001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4103168	chr5:61526001-61526002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570344966	chr5:61526012-61526013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs4114733	chr5:61526013-61526014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs372293508	chr5:61526048-61526049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538842667	chr5:61526056-61526057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs368687735	chr5:61526067-61526068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12152729	chr5:61526103-61526104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs552765701	chr5:61526109-61526110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs35822663	chr5:61526124-61526125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77649762	chr5:61526143-61526144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs4103170	chr5:61526202-61526203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs4103171	chr5:61526208-61526209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77272060	chr5:61526258-61526259	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs79520148	chr5:61526259-61526260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147419424	chr5:61526267-61526268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs77022061	chr5:61526269-61526270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs4103172	chr5:61526278-61526279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs4103173	chr5:61526292-61526293	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74330913	chr5:61526295-61526296	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs535168246	chr5:61526317-61526318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs7725224	chr5:61526322-61526323	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs181826607	chr5:61526335-61526336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs4103174	chr5:61526370-61526371	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs187236024	chr5:61526376-61526377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs4103175	chr5:61526386-61526387	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs4103176	chr5:61526459-61526460	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576310601	chr5:61526469-61526470	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112610517	chr5:61526490-61526491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs544871396	chr5:61526508-61526509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150542138	chr5:61526578-61526579	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571918867	chr5:61526582-61526583	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35352218	chr5:61526661-61526662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs540678118	chr5:61526670-61526671	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs539122848	chr5:61526745-61526746	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560671102	chr5:61526795-61526796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529609079	chr5:61526814-61526815	Enhancers 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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61521000-61526200	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:61521000-61526200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:61521000-61526200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr5:61521000-61529200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr5:61526200-61526800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr5:61526200-61527800	Enhancers	Monocytes-CD14+_RO01746	blood
7	chr5:61526200-61529400	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr5:61526200-61529800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr5:61526400-61530000	Enhancers	Fetal Intestine Large	intestine
10	chr5:61526400-61530200	Enhancers	Fetal Intestine Small	intestine
11	chr5:61526600-61526800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:61526800-61530800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:61526800-61531000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr5:61527000-61527200	Enhancers	Duodenum Mucosa	Duodenum
15	chr5:61527600-61528200	Enhancers	K562	blood
16	chr5:61527800-61528000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:61527800-61528000	Enhancers	Duodenum Mucosa	Duodenum
18	chr5:61527800-61528000	Weak transcription	GM12878-XiMat	blood
19	chr5:61528000-61528200	Enhancers	GM12878-XiMat	blood
20	chr5:61528000-61528600	Enhancers	HSMMtube	muscle
21	chr5:61528000-61529000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:61528000-61529800	Enhancers	Hela-S3	cervix
23	chr5:61528200-61528800	Weak transcription	K562	blood
24	chr5:61528200-61529000	Weak transcription	GM12878-XiMat	blood

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