Variant report

Variant	esv3370917
Chromosome Location	chr5:112952953-112957151
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 91 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:91 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34928666	chr5:112952959-112952960	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs115477463	chr5:112952973-112952974	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs190192537	chr5:112952974-112952975	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs116685240	chr5:112952982-112952983	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs61488069	chr5:112952993-112952994	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs541291140	chr5:112953020-112953021	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs559701119	chr5:112953023-112953024	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs141851111	chr5:112953025-112953026	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs372304093	chr5:112953028-112953029	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs369679208	chr5:112953066-112953067	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs535941619	chr5:112953076-112953077	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs146937664	chr5:112953084-112953085	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563318949	chr5:112953085-112953086	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs373142292	chr5:112953123-112953124	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs530619105	chr5:112953125-112953126	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs552019940	chr5:112953167-112953168	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs34817468	chr5:112953168-112953169	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs538877781	chr5:112953181-112953182	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs71577455	chr5:112953197-112953198	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs373831038	chr5:112953198-112953199	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs35907727	chr5:112953199-112953200	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs115598992	chr5:112953206-112953207	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs183299987	chr5:112953207-112953208	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554535666	chr5:112953208-112953209	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs576065021	chr5:112953214-112953215	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs376261328	chr5:112953217-112953218	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs537533242	chr5:112953220-112953221	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114516926	chr5:112953225-112953226	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs58122925	chr5:112953261-112953262	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs540878644	chr5:112953262-112953263	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs371905672	chr5:112953266-112953267	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs111629148	chr5:112953273-112953274	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs137887768	chr5:112953302-112953303	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs76624159	chr5:112953307-112953308	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs76111916	chr5:112953308-112953309	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs77987925	chr5:112953309-112953310	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs2914196	chr5:112953312-112953313	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs545855338	chr5:112953313-112953314	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs187012083	chr5:112953316-112953317	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs57112456	chr5:112953336-112953337	ZNF genes & repeats Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572524110	chr5:112953339-112953340	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs191803538	chr5:112953343-112953344	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs530316205	chr5:112953350-112953351	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs542676420	chr5:112953351-112953352	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs184013796	chr5:112953399-112953400	ZNF genes & repeats Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs570007796	chr5:112953420-112953421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537066534	chr5:112953421-112953422	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558970427	chr5:112953426-112953427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs570860274	chr5:112953436-112953437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188022726	chr5:112953465-112953466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	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
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
Retinoblastoma	22278416	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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Autism	22495309	CNVD

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112952800-112953400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
2	chr5:112952800-112953400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr5:112953000-112953400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:112953400-112954200	Weak transcription	H1 Cell Line	embryonic stem cell

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