Variant report

Variant	esv8999
Chromosome Location	chr20:14571718-14574090
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 96 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369273051	chr20:14571740-14571741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565638552	chr20:14571770-14571771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539432875	chr20:14571792-14571793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557834796	chr20:14571818-14571819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs370918293	chr20:14571878-14571879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548711099	chr20:14571955-14571956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs531927939	chr20:14571958-14571959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571362506	chr20:14571994-14571995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538879274	chr20:14572023-14572024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs374249184	chr20:14572025-14572026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs6033981	chr20:14572059-14572060	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs141597771	chr20:14572060-14572061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs573804908	chr20:14572072-14572073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534568547	chr20:14572080-14572081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs59468155	chr20:14572088-14572089	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs577560752	chr20:14572124-14572125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs544978041	chr20:14572129-14572130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs563373046	chr20:14572134-14572135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575297155	chr20:14572215-14572216	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62202902	chr20:14572238-14572239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs561277822	chr20:14572254-14572255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs148847248	chr20:14572270-14572271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs75497096	chr20:14572295-14572296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546918445	chr20:14572298-14572299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371998417	chr20:14572300-14572301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79435481	chr20:14572362-14572363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs532885196	chr20:14572380-14572381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199896572	chr20:14572387-14572388	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs553848654	chr20:14572391-14572392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs554223133	chr20:14572418-14572419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2876381	chr20:14572425-14572426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs189137739	chr20:14572434-14572435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142526622	chr20:14572436-14572437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs539721090	chr20:14572468-14572469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs536721774	chr20:14572489-14572490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549067762	chr20:14572497-14572498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181571597	chr20:14572619-14572620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs556384089	chr20:14572626-14572627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185725792	chr20:14572636-14572637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552775258	chr20:14572638-14572639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs6110346	chr20:14572664-14572665	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs559059294	chr20:14572705-14572706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538559573	chr20:14572713-14572714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs541975889	chr20:14572797-14572798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs556907385	chr20:14572819-14572820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs575237188	chr20:14572840-14572841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs190186197	chr20:14572852-14572853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs561424225	chr20:14572908-14572909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs573304639	chr20:14572927-14572928	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs540800551	chr20:14572992-14572993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	17142309	CNVD
Cancer	20164920	CNVD
Schizophrenia	23813976	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Autism	20531469	CNVD
Breast cancer	21364760	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:14570600-14577400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr20:14572600-14573000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr20:14572600-14573000	Enhancers	HMEC	breast
4	chr20:14574000-14574600	Enhancers	HUES6 Cell Line	embryonic stem cell

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