Variant report

Variant	esv10278
Chromosome Location	chr18:14770192-14772361
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr18:14770171-14770386	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000265481	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549892601	chr18:14770230-14770231	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs561857018	chr18:14770250-14770251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs569799727	chr18:14770260-14770261	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs139181618	chr18:14770263-14770264	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs561878457	chr18:14770274-14770275	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552521200	chr18:14770307-14770308	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs529044717	chr18:14770317-14770318	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs375341252	chr18:14770330-14770331	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs540872399	chr18:14770344-14770345	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs555294066	chr18:14770371-14770372	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563097853	chr18:14770392-14770393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs367807771	chr18:14770403-14770404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536236331	chr18:14770437-14770438	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556157721	chr18:14770447-14770448	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142164004	chr18:14770479-14770480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs545040465	chr18:14770594-14770595	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558481678	chr18:14770605-14770606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs369403840	chr18:14770607-14770608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs572194792	chr18:14770632-14770633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376688907	chr18:14770639-14770640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183771586	chr18:14770659-14770660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs188836856	chr18:14770661-14770662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs73427575	chr18:14770662-14770663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs543427971	chr18:14770666-14770667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563315559	chr18:14770737-14770738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs146007968	chr18:14770741-14770742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs372655857	chr18:14770769-14770770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs181217552	chr18:14770780-14770781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186237405	chr18:14770794-14770795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533282014	chr18:14770795-14770796	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs566184518	chr18:14770804-14770805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs549612643	chr18:14770816-14770817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs528661961	chr18:14770855-14770856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs138915156	chr18:14770866-14770867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550771583	chr18:14770884-14770885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs147091382	chr18:14770926-14770927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200644546	chr18:14771004-14771005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537709428	chr18:14771046-14771047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs551735680	chr18:14771208-14771209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9748869	chr18:14771265-14771266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs372822431	chr18:14771326-14771327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs190297161	chr18:14771368-14771369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs149315627	chr18:14771376-14771377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs9748864	chr18:14771395-14771396	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181496228	chr18:14771403-14771404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186262508	chr18:14771450-14771451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs9303860	chr18:14771476-14771477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs540813580	chr18:14771479-14771480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12966326	chr18:14771480-14771481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs9303861	chr18:14771484-14771485	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:14769400-14778400	Weak transcription	Osteobl	bone
2	chr18:14769800-14770400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr18:14770400-14770600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:14770600-14776200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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