Variant report

Variant	esv3468524
Chromosome Location	chr5:119379078-119384026
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	chr3:99997776..99998276-chr5:119383981..119384507,2	MCF-7	breast:

Extended variants
information (count: 174 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs386691709	chr5:119379104-119379105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs34068942	chr5:119379129-119379130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs6888042	chr5:119379130-119379131	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs564680214	chr5:119379176-119379177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6888189	chr5:119379182-119379183	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs536884211	chr5:119379186-119379187	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151264190	chr5:119379221-119379222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs377306435	chr5:119379232-119379233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs11241529	chr5:119379252-119379253	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs576433468	chr5:119379256-119379257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs549156681	chr5:119379264-119379265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569440961	chr5:119379269-119379270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531659968	chr5:119379295-119379296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs551872179	chr5:119379314-119379315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142776462	chr5:119379323-119379324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs200839451	chr5:119379324-119379325	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs377232083	chr5:119379328-119379329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs571515541	chr5:119379369-119379370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs78835870	chr5:119379418-119379419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs140501178	chr5:119379429-119379430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs57640733	chr5:119379449-119379450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567565702	chr5:119379462-119379463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs373024302	chr5:119379503-119379504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs191201733	chr5:119379549-119379550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs556353389	chr5:119379559-119379560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs146983532	chr5:119379571-119379572	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544751323	chr5:119379590-119379591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs147626520	chr5:119379594-119379595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142247701	chr5:119379610-119379611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113213672	chr5:119379753-119379754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560589653	chr5:119379755-119379756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534725456	chr5:119379934-119379935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs558640119	chr5:119379944-119379945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371547422	chr5:119379954-119379955	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs13163408	chr5:119380060-119380061	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs540924220	chr5:119380076-119380077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559257058	chr5:119380081-119380082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs56788223	chr5:119380132-119380133	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs182471349	chr5:119380134-119380135	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs72663339	chr5:119380147-119380148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531947647	chr5:119380149-119380150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs551724006	chr5:119380150-119380151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs571695328	chr5:119380152-119380153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs189186545	chr5:119380165-119380166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs574408199	chr5:119380225-119380226	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547806275	chr5:119380419-119380420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567673877	chr5:119380420-119380421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs536504944	chr5:119380489-119380490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146096361	chr5:119381014-119381015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370853064	chr5:119381080-119381081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119376000-119379200	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr5:119378600-119379600	Enhancers	Monocytes-CD14+_RO01746	blood
3	chr5:119379200-119380200	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr5:119380200-119382600	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr5:119382600-119383200	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr5:119383200-119385000	Weak transcription	Primary neutrophils fromperipheralblood	blood

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