Variant report

Variant	esv3324826
Chromosome Location	chr20:15640298-15642109
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 84 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:84 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544311023	chr20:15640298-15640299	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs189632396	chr20:15640299-15640300	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs74179783	chr20:15640307-15640308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529656769	chr20:15640317-15640318	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs6105448	chr20:15640326-15640327	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs559903139	chr20:15640369-15640370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs459448	chr20:15640374-15640375	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs200788427	chr20:15640382-15640383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150801787	chr20:15640390-15640391	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181930687	chr20:15640475-15640476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs78813096	chr20:15640490-15640491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs460771	chr20:15640565-15640566	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568586743	chr20:15640572-15640573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569290300	chr20:15640605-15640606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371901018	chr20:15640643-15640644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs460818	chr20:15640710-15640711	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs75857648	chr20:15640798-15640799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs572349945	chr20:15640850-15640851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548374816	chr20:15640858-15640859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs558500627	chr20:15640890-15640891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs370454172	chr20:15640945-15640946	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs576690493	chr20:15640949-15640950	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs544078835	chr20:15640950-15640951	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs562436765	chr20:15641045-15641046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs574436022	chr20:15641046-15641047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10665751	chr20:15641047-15641048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs386393403	chr20:15641048-15641049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs386393404	chr20:15641055-15641056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs147139510	chr20:15641065-15641066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs550356684	chr20:15641087-15641088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560065793	chr20:15641090-15641091	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs465981	chr20:15641096-15641097	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs376508718	chr20:15641103-15641104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs534009515	chr20:15641105-15641106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs554023273	chr20:15641118-15641119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs545678384	chr20:15641174-15641175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs76574811	chr20:15641204-15641205	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376198227	chr20:15641205-15641206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140443452	chr20:15641221-15641222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549605863	chr20:15641269-15641270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs568170630	chr20:15641311-15641312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529339683	chr20:15641319-15641320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112049451	chr20:15641324-15641325	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187009899	chr20:15641331-15641332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539871187	chr20:15641338-15641339	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs191927914	chr20:15641372-15641373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs539371630	chr20:15641395-15641396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs4814394	chr20:15641397-15641398	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs145369138	chr20:15641403-15641404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs555896217	chr20:15641472-15641473	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Glioblastoma multiforme	21138945	CNVD
Cancer	20164919	CNVD
Multiple sclerosis	20663923	CNVD
Schizophrenia	20663923	CNVD
brain infarct	20663923	CNVD
Breast cancer	22522925	CNVD
Cancer	20164920	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Non-small cell lung cancer	16651412	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:15634000-15641200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:15637200-15640800	Weak transcription	NHDF-Ad	bronchial
3	chr20:15638800-15640600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr20:15639600-15640800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr20:15639600-15641200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr20:15639600-15641200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr20:15639600-15641200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr20:15639800-15641000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:15640200-15641200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr20:15640600-15641000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr20:15640800-15642400	Enhancers	NHDF-Ad	bronchial
12	chr20:15641000-15641200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr20:15641000-15641200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr20:15641000-15642000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr20:15641200-15641400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr20:15641200-15641800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr20:15641200-15642200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr20:15641200-15642200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr20:15641200-15642400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr20:15641200-15643600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:15641400-15641800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr20:15641800-15642200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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