Variant report

Variant	esv3433169
Chromosome Location	chr5:61512895-61516193
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	chr5:61513831..61515618-chr5:61821739..61824122,2	K562	blood:
2	chr5:61501169..61503856-chr5:61511488..61513182,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557619889	chr5:61512899-61512900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572958572	chr5:61512914-61512915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539983450	chr5:61512950-61512951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs553324941	chr5:61512954-61512955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573116572	chr5:61513001-61513002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs61212542	chr5:61513042-61513043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554829902	chr5:61513082-61513083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs377371581	chr5:61513092-61513093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370325160	chr5:61513126-61513127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187168157	chr5:61513132-61513133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs375514042	chr5:61513176-61513177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191670169	chr5:61513188-61513189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183724743	chr5:61513197-61513198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs188215686	chr5:61513245-61513246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs56103269	chr5:61513305-61513306	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs180761210	chr5:61513307-61513308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545450699	chr5:61513350-61513351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs185695900	chr5:61513357-61513358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs1895392	chr5:61513405-61513406	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs190219739	chr5:61513443-61513444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs528047320	chr5:61513449-61513450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375130012	chr5:61513457-61513458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4122299	chr5:61513472-61513473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562226694	chr5:61513625-61513626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs531256221	chr5:61513642-61513643	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs551191512	chr5:61513672-61513673	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571094435	chr5:61513681-61513682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs540050610	chr5:61513767-61513768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs546733159	chr5:61513785-61513786	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566980827	chr5:61513825-61513826	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs565091079	chr5:61513857-61513858	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs149066965	chr5:61513861-61513862	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs182135764	chr5:61513881-61513882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs574368258	chr5:61513903-61513904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs555392759	chr5:61513929-61513930	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs4081730	chr5:61513931-61513932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs4081729	chr5:61513934-61513935	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs4081728	chr5:61513943-61513944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371024355	chr5:61513946-61513947	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs4081727	chr5:61513963-61513964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577373307	chr5:61513973-61513974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536996707	chr5:61514045-61514046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs4145850	chr5:61514172-61514173	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs61690587	chr5:61514173-61514174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34538633	chr5:61514193-61514194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs576581719	chr5:61514202-61514203	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545615139	chr5:61514215-61514216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs559149356	chr5:61514232-61514233	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4078712	chr5:61514237-61514238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs4078711	chr5:61514258-61514259	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:4 , 50 per page) page: 1

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

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