Variant report

Variant	esv3346201
Chromosome Location	chr5:117877503-117881301
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 155 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:155 , 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	rs372007152	chr5:117877512-117877513	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs563260582	chr5:117877518-117877519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs532085243	chr5:117877520-117877521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs551891437	chr5:117877529-117877530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115135410	chr5:117877537-117877538	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs528390609	chr5:117877538-117877539	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs548530206	chr5:117877543-117877544	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111207361	chr5:117877545-117877546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs111207362	chr5:117877556-117877557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs111207363	chr5:117877565-117877566	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556595122	chr5:117877567-117877568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs111217519	chr5:117877568-117877569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111217479	chr5:117877571-117877572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs141646792	chr5:117877574-117877575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs111207364	chr5:117877575-117877576	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs538983452	chr5:117877584-117877585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs182954843	chr5:117877586-117877587	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs61725539	chr5:117877599-117877600	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs139996014	chr5:117877606-117877607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs541308974	chr5:117877607-117877608	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs111217462	chr5:117877608-117877609	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs554858388	chr5:117877616-117877617	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs61728253	chr5:117877618-117877619	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574947963	chr5:117877624-117877625	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs55843639	chr5:117877631-117877632	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs563353189	chr5:117877632-117877633	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs374913722	chr5:117877634-117877635	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs61728595	chr5:117877638-117877639	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs56380711	chr5:117877648-117877649	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs186633317	chr5:117877650-117877651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs376349786	chr5:117877654-117877655	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs191940187	chr5:117877661-117877662	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs61726809	chr5:117877662-117877663	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs182806122	chr5:117877663-117877664	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs561858301	chr5:117877670-117877671	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs115034120	chr5:117877671-117877672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs62638266	chr5:117877673-117877674	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs55850026	chr5:117877678-117877679	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs570667364	chr5:117877680-117877681	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs111163464	chr5:117877682-117877683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs145776984	chr5:117877687-117877688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs111163465	chr5:117877690-117877691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs201452242	chr5:117877696-117877697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs188266373	chr5:117877698-117877699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs575041014	chr5:117877703-117877704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs528018227	chr5:117877704-117877705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs369362992	chr5:117877724-117877725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs199623244	chr5:117877730-117877731	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs56242018	chr5:117877737-117877738	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111163466	chr5:117877750-117877751	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

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
Breast cancer	21509527	CNVD
Autism	22543975	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:117875600-117878400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr5:117880400-117880800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr5:117880400-117881000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr5:117880800-117884200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:117881000-117884200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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