Variant report

Variant	esv3322998
Chromosome Location	chr5:119382878-119385426
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: 232 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:232 , 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	rs566344307	chr5:119382913-119382914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62377413	chr5:119383000-119383001	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs576666742	chr5:119383010-119383011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs545389758	chr5:119383012-119383013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs565431455	chr5:119383020-119383021	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs548753791	chr5:119383049-119383050	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs570242139	chr5:119383062-119383063	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs187170628	chr5:119383092-119383093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs139720444	chr5:119383115-119383116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs541504133	chr5:119383149-119383150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs74836823	chr5:119383168-119383169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537139770	chr5:119383180-119383181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs548952902	chr5:119383198-119383199	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs530262350	chr5:119383239-119383240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs550138080	chr5:119383263-119383264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11952521	chr5:119383268-119383269	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192774473	chr5:119383283-119383284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552207830	chr5:119383292-119383293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78081111	chr5:119383328-119383329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184293119	chr5:119383333-119383334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs146142999	chr5:119383372-119383373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs567813629	chr5:119383401-119383402	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs139997720	chr5:119383413-119383414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs190708168	chr5:119383421-119383422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs181994490	chr5:119383423-119383424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs372559083	chr5:119383465-119383466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs62377414	chr5:119383552-119383553	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs62377415	chr5:119383563-119383564	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs34920629	chr5:119383569-119383570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74381141	chr5:119383575-119383576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs62377416	chr5:119383587-119383588	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs200285460	chr5:119383594-119383595	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs80159842	chr5:119383595-119383596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs184357164	chr5:119383598-119383599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541618474	chr5:119383604-119383605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs561505527	chr5:119383609-119383610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs62377417	chr5:119383612-119383613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs201077194	chr5:119383616-119383617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs199599989	chr5:119383618-119383619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs70985207	chr5:119383621-119383622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189085382	chr5:119383638-119383639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs575440439	chr5:119383649-119383650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs369998141	chr5:119383679-119383680	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs71586458	chr5:119383689-119383690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543555587	chr5:119383696-119383697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373359591	chr5:119383703-119383704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs369344177	chr5:119383713-119383714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1213181	chr5:119383721-119383722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs373282454	chr5:119383727-119383728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75759017	chr5:119383735-119383736	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:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119382600-119383200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr5:119383200-119385000	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr5:119385000-119385200	Enhancers	Primary neutrophils fromperipheralblood	blood

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