Variant report

Variant	esv995175
Chromosome Location	chr20:40699252-40707470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:40704838..40706850-chr20:40726067..40728790,2	MCF-7	breast:
2	chr20:40707141..40708793-chr20:40710489..40712179,2	K562	blood:
3	chr20:40695749..40698004-chr20:40702980..40704487,2	MCF-7	breast:
4	chr20:40701699..40704442-chr20:40710601..40712886,2	MCF-7	breast:

Extended variants
information (count: 313 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:313 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs554530481	chr20:40699267-40699268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148463953	chr20:40699285-40699286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs562275475	chr20:40699323-40699324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs6102658	chr20:40699327-40699328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs142624637	chr20:40699370-40699371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535566200	chr20:40699373-40699374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6130025	chr20:40699374-40699375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs568867036	chr20:40699380-40699381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs56287716	chr20:40699411-40699412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537432237	chr20:40699429-40699430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550841194	chr20:40699439-40699440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558474222	chr20:40699464-40699465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs6102659	chr20:40699488-40699489	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs534191061	chr20:40699521-40699522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs6016676	chr20:40699537-40699538	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs142067921	chr20:40699556-40699557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs192713732	chr20:40699578-40699579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs182373266	chr20:40699642-40699643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs78729787	chr20:40699666-40699667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs376323159	chr20:40699704-40699705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545077124	chr20:40699705-40699706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565237908	chr20:40699712-40699713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs6029955	chr20:40699721-40699722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6029956	chr20:40699744-40699745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs6029957	chr20:40699760-40699761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533280908	chr20:40699788-40699789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546888811	chr20:40699824-40699825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4141710	chr20:40699825-40699826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs367666113	chr20:40699837-40699838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549100473	chr20:40699844-40699845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs144263210	chr20:40699872-40699873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11697001	chr20:40699907-40699908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs572881700	chr20:40699942-40699943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs567777262	chr20:40699960-40699961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550980026	chr20:40699963-40699964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570884194	chr20:40700029-40700030	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs566446201	chr20:40700046-40700047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs542140918	chr20:40700069-40700070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533855523	chr20:40700075-40700076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs528473744	chr20:40700116-40700117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573937221	chr20:40700117-40700118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs192368990	chr20:40700127-40700128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs57040102	chr20:40700161-40700162	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs202016577	chr20:40700171-40700172	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184407057	chr20:40700175-40700176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2866942	chr20:40700201-40700202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188846359	chr20:40700240-40700241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs147784008	chr20:40700251-40700252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532857392	chr20:40700285-40700286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6065431	chr20:40700319-40700320	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Gastric cancer	17908304	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Urothelial carcinoma	21177765	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
Autism	22495311	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	21693616	CNVD
Acute myeloid leukemia	16864856	CNVD
Astrocytoma	17387387	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
colon cancer	17210682	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	22028636	CNVD
Breast cancer	21264507	CNVD
Thyroid cancer	19087340	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Soft tissue tumor	16732325	CNVD
Colorectal cancer	19359472	CNVD
Gastric cancer	17167181	CNVD
Myeloproliferative neoplasm	19047681	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	17603634	CNVD
Melanoma	18172304	CNVD
Breast cancer	16608533	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Breast cancer	21364760	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Oral cancer	21386901	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute myeloid leukemia	20729466	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Ovarian cancer	19193619	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelodysplastic syndrome	17634407	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Ductal carcinoma	22052326	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	22539939	CNVD
Myelofibrosis	22110671	CNVD
Cervical cancer	16585170	CNVD
Ovarian neoplasms	16753589	CNVD
Infertility	21528002	CNVD
Hepatocellular carcinoma	16750200	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Gastric cancer	16891809	CNVD
Multiple myeloma	16616336	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Malignant melanoma	17260012	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40697000-40703400	Weak transcription	Fetal Lung	lung
2	chr20:40697200-40705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr20:40699000-40702800	Weak transcription	Fetal Stomach	stomach
4	chr20:40699400-40701800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:40701800-40715200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr20:40702200-40702400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr20:40702800-40703400	Enhancers	Colon Smooth Muscle	Colon
8	chr20:40702800-40706000	Enhancers	Fetal Stomach	stomach
9	chr20:40703000-40703800	Enhancers	Rectal Smooth Muscle	rectum
10	chr20:40703200-40704200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr20:40703200-40704200	Enhancers	Stomach Mucosa	stomach
12	chr20:40703200-40704400	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr20:40703200-40704600	Enhancers	Gastric	stomach
14	chr20:40703400-40705200	Enhancers	Fetal Lung	lung
15	chr20:40703800-40713200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr20:40704000-40704200	Enhancers	Right Ventricle	heart
17	chr20:40704000-40704600	Enhancers	Esophagus	oesophagus
18	chr20:40704000-40705000	Enhancers	Lung	lung
19	chr20:40704000-40705200	Enhancers	Duodenum Mucosa	Duodenum
20	chr20:40704800-40705000	Enhancers	Right Ventricle	heart
21	chr20:40705400-40706000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr20:40705800-40707600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr20:40706000-40708600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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