Variant report

Variant	esv20575
Chromosome Location	chr20:24758946-24759790
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24751479..24753898-chr20:24757094..24759323,2	MCF-7	breast:
2	chr20:24629904..24632760-chr20:24759535..24761078,2	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:63 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6083620	chr20:24758961-24758962	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs371463581	chr20:24758962-24758963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs6049971	chr20:24758970-24758971	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs6106946	chr20:24758998-24758999	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs541244861	chr20:24759009-24759010	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs143673560	chr20:24759045-24759046	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs71335915	chr20:24759049-24759050	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs12481605	chr20:24759050-24759051	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs142741094	chr20:24759073-24759074	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs138281101	chr20:24759074-24759075	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs367918458	chr20:24759078-24759079	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs371391646	chr20:24759082-24759083	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs71335542	chr20:24759086-24759087	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs200613774	chr20:24759094-24759095	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs202031862	chr20:24759096-24759097	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs12480572	chr20:24759097-24759098	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs12481615	chr20:24759110-24759111	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs71183387	chr20:24759117-24759118	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs150918278	chr20:24759119-24759120	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs181247355	chr20:24759130-24759131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs56008440	chr20:24759139-24759140	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs111590019	chr20:24759147-24759148	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs73903587	chr20:24759181-24759182	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112327498	chr20:24759201-24759202	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs146224858	chr20:24759203-24759204	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs145711883	chr20:24759216-24759217	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs562533734	chr20:24759256-24759257	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs531606002	chr20:24759257-24759258	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113033829	chr20:24759263-24759264	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs186077725	chr20:24759269-24759270	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs534096651	chr20:24759280-24759281	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191124244	chr20:24759297-24759298	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs549518499	chr20:24759334-24759335	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs78002439	chr20:24759367-24759368	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs115659665	chr20:24759374-24759375	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs6132765	chr20:24759376-24759377	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576068823	chr20:24759388-24759389	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs535436335	chr20:24759405-24759406	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs553527949	chr20:24759407-24759408	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs555345553	chr20:24759409-24759410	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs149475936	chr20:24759461-24759462	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs73612620	chr20:24759505-24759506	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs368721410	chr20:24759506-24759507	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs182440803	chr20:24759513-24759514	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs545852558	chr20:24759521-24759522	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs554615404	chr20:24759549-24759550	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs576463949	chr20:24759572-24759573	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs372896960	chr20:24759586-24759587	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs144052507	chr20:24759594-24759595	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs13045011	chr20:24759596-24759597	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:56)

Disease	PMID	Source
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
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Oral cancer	21386901	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24749200-24763600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:24751000-24761200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24753400-24761200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr20:24757600-24759400	Weak transcription	HMEC	breast
5	chr20:24757800-24766600	Enhancers	Fetal Thymus	thymus
6	chr20:24758200-24759000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr20:24758400-24759200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr20:24758400-24759800	Enhancers	Brain Cingulate Gyrus	brain
9	chr20:24758400-24760200	Enhancers	Brain Hippocampus Middle	brain
10	chr20:24758400-24766800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr20:24758600-24759400	Weak transcription	A549	lung
12	chr20:24758600-24759800	Enhancers	Esophagus	oesophagus
13	chr20:24758600-24759800	Enhancers	Pancreas	Pancrea
14	chr20:24758600-24760800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr20:24758600-24761400	Enhancers	Fetal Muscle Trunk	muscle
16	chr20:24758600-24762400	Enhancers	Primary hematopoietic stem cells	blood
17	chr20:24758600-24763800	Enhancers	Fetal Muscle Leg	muscle
18	chr20:24758800-24759000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr20:24758800-24760800	Enhancers	Spleen	Spleen
20	chr20:24758800-24762400	Enhancers	Thymus	Thymus
21	chr20:24758800-24767400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr20:24759000-24759200	Flanking Bivalent TSS/Enh	Breast Myoepithelial Primary Cells	Breast
23	chr20:24759000-24759400	Enhancers	HSMMtube	muscle
24	chr20:24759000-24759600	Bivalent Enhancer	HSMM	muscle
25	chr20:24759200-24759600	Enhancers	Right Atrium	heart
26	chr20:24759200-24759800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr20:24759200-24759800	Enhancers	Fetal Brain Female	brain
28	chr20:24759200-24760000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
29	chr20:24759200-24761200	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr20:24759400-24759600	Flanking Active TSS	Lung	lung
31	chr20:24759400-24759600	Enhancers	HMEC	breast
32	chr20:24759600-24759800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr20:24759600-24759800	Enhancers	Colon Smooth Muscle	Colon
34	chr20:24759600-24760000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr20:24759600-24760600	Enhancers	Fetal Stomach	stomach
36	chr20:24759600-24760600	Enhancers	Lung	lung

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