Variant report

Variant	esv3406015
Chromosome Location	chr5:119046453-119052351
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	chr5:119042499..119044624-chr5:119047745..119049345,2	K562	blood:

Extended variants
information (count: 227 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:227 , 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	rs149901193	chr5:119046602-119046603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs575855922	chr5:119046605-119046606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143978081	chr5:119046610-119046611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371502707	chr5:119046666-119046667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527629548	chr5:119046675-119046676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs180832777	chr5:119046689-119046690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs140082984	chr5:119046706-119046707	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529790368	chr5:119046730-119046731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs577931299	chr5:119046759-119046760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs34514756	chr5:119046813-119046814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs71953475	chr5:119046814-119046815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs330173	chr5:119046825-119046826	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs569794369	chr5:119046851-119046852	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369128001	chr5:119046859-119046860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538710235	chr5:119046863-119046864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551726009	chr5:119046879-119046880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145560794	chr5:119046891-119046892	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77346798	chr5:119046933-119046934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs147735668	chr5:119046934-119046935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs186532883	chr5:119046969-119046970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs537057255	chr5:119046978-119046979	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs560364709	chr5:119047299-119047300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543473739	chr5:119047353-119047354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs186583477	chr5:119047391-119047392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs191436512	chr5:119047393-119047394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs532151789	chr5:119047454-119047455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552206763	chr5:119047469-119047470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571759120	chr5:119047488-119047489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs527854234	chr5:119047528-119047529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547707666	chr5:119047543-119047544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs567647598	chr5:119047589-119047590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536533641	chr5:119047617-119047618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs183168747	chr5:119047739-119047740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs162606	chr5:119047791-119047792	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs11241515	chr5:119047827-119047828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs373651930	chr5:119047853-119047854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs558974795	chr5:119047876-119047877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572168605	chr5:119047934-119047935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543577446	chr5:119047944-119047945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541247221	chr5:119047955-119047956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs554786722	chr5:119047974-119047975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77067633	chr5:119047985-119047986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543734595	chr5:119047994-119047995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs563274543	chr5:119048002-119048003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532094061	chr5:119048043-119048044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs200049712	chr5:119048046-119048047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186439834	chr5:119048116-119048117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376380403	chr5:119048117-119048118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs142654112	chr5:119048160-119048161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs189823232	chr5:119048190-119048191	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119046600-119047000	Enhancers	Right Ventricle	heart
2	chr5:119046800-119047000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:119047200-119058800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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