Variant report

Variant	esv3454149
Chromosome Location	chr20:16207075-16209211
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	NR2F2	chr20:16207180-16207581	K562	blood:	n/a	n/a
2	TEAD4	chr20:16206778-16207188	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
PPIAP17	TF binding region

Extended variants
information (count: 95 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373867853	chr20:16207076-16207077	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs376585682	chr20:16207082-16207083	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs59323399	chr20:16207096-16207097	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs543954045	chr20:16207146-16207147	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs559996069	chr20:16207147-16207148	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs149610105	chr20:16207166-16207167	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs568424022	chr20:16207186-16207187	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs545142952	chr20:16207188-16207189	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs576761731	chr20:16207205-16207206	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs562620681	chr20:16207210-16207211	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs200909021	chr20:16207261-16207262	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs138421290	chr20:16207278-16207279	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs530206566	chr20:16207335-16207336	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs548807119	chr20:16207346-16207347	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545775347	chr20:16207389-16207390	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs28497853	chr20:16207482-16207483	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs6034415	chr20:16207498-16207499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs371785603	chr20:16207579-16207580	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs6131799	chr20:16207638-16207639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs6131800	chr20:16207659-16207660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs372416673	chr20:16207678-16207679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561241794	chr20:16207711-16207712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181573656	chr20:16207785-16207786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373193311	chr20:16207806-16207807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs560727488	chr20:16207824-16207825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376966354	chr20:16207842-16207843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370094531	chr20:16207852-16207853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374417685	chr20:16207950-16207951	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs28532156	chr20:16207985-16207986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs62198066	chr20:16208018-16208019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376661129	chr20:16208023-16208024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527981880	chr20:16208031-16208032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562392384	chr20:16208067-16208068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369090398	chr20:16208077-16208078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs372532329	chr20:16208102-16208103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs552952622	chr20:16208112-16208113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs570838978	chr20:16208113-16208114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569840367	chr20:16208122-16208123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538253904	chr20:16208130-16208131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549977205	chr20:16208137-16208138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs377204790	chr20:16208143-16208144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568543725	chr20:16208161-16208162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536019364	chr20:16208188-16208189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs28601616	chr20:16208197-16208198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs370389128	chr20:16208211-16208212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373145284	chr20:16208262-16208263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531363989	chr20:16208288-16208289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201221932	chr20:16208292-16208293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs28420208	chr20:16208316-16208317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs28678829	chr20:16208318-16208319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:16196200-16215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr20:16207000-16209200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr20:16209200-16209400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr20:16209200-16209800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr20:16209200-16209800	Active TSS	K562	blood

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