Variant report

Variant	esv3470664
Chromosome Location	chr5:118925227-118932368
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 102 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:102 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544844556	chr5:118925380-118925381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs536281615	chr5:118925385-118925386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs185890273	chr5:118925400-118925401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs538530443	chr5:118925423-118925424	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs558158670	chr5:118925428-118925429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571972467	chr5:118925434-118925435	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs534428355	chr5:118925459-118925460	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs80080173	chr5:118925463-118925464	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs574445061	chr5:118925510-118925511	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs543282011	chr5:118925511-118925512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs202218077	chr5:118925526-118925527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs556777526	chr5:118925642-118925643	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188644721	chr5:118925668-118925669	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs564007348	chr5:118925677-118925678	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs545686962	chr5:118925696-118925697	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs141729340	chr5:118925698-118925699	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs180989770	chr5:118925707-118925708	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs35210155	chr5:118925748-118925749	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541171077	chr5:118925749-118925750	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555631453	chr5:118925753-118925754	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530125351	chr5:118925778-118925779	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs549601668	chr5:118925780-118925781	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569492919	chr5:118925789-118925790	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs533084114	chr5:118925792-118925793	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs72790235	chr5:118925799-118925800	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs532295897	chr5:118925815-118925816	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185226317	chr5:118925818-118925819	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs565542683	chr5:118925828-118925829	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534660153	chr5:118925835-118925836	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs72553604	chr5:118925915-118925916	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs328678	chr5:118925916-118925917	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs560142266	chr5:118925945-118925946	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs568179922	chr5:118926012-118926013	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115631656	chr5:118926100-118926101	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs556815965	chr5:118926101-118926102	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs576678240	chr5:118926109-118926110	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73790899	chr5:118926125-118926126	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559160947	chr5:118926149-118926150	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541456284	chr5:118926166-118926167	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs561112109	chr5:118926169-118926170	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs34915898	chr5:118926182-118926183	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs2678078	chr5:118926185-118926186	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs192032730	chr5:118926215-118926216	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs545192339	chr5:118926236-118926237	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs35408047	chr5:118926244-118926245	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs373554611	chr5:118926250-118926251	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs543484996	chr5:118926279-118926280	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183907314	chr5:118926300-118926301	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs528862450	chr5:118926364-118926365	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs532127652	chr5:118926393-118926394	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118921600-118926400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:118925600-118926200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr5:118931200-118931800	Enhancers	Brain Substantia Nigra	brain
4	chr5:118931400-118931600	Enhancers	Brain Hippocampus Middle	brain
5	chr5:118931400-118932000	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr5:118931400-118932600	Enhancers	Brain Cingulate Gyrus	brain
7	chr5:118931600-118932000	Active TSS	Brain Hippocampus Middle	brain

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