Variant report

Variant	esv3454822
Chromosome Location	chr20:40841903-40844326
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:83 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75134670	chr20:40841916-40841917	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552585295	chr20:40841973-40841974	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs143086453	chr20:40842002-40842003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs117343652	chr20:40842039-40842040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561502460	chr20:40842083-40842084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530605684	chr20:40842142-40842143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544439718	chr20:40842153-40842154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs564201576	chr20:40842180-40842181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs57258219	chr20:40842216-40842217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs57499683	chr20:40842221-40842222	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs566099722	chr20:40842222-40842223	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570848033	chr20:40842307-40842308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191613673	chr20:40842328-40842329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs184506837	chr20:40842334-40842335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs548709912	chr20:40842339-40842340	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568582250	chr20:40842340-40842341	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565386864	chr20:40842419-40842420	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs189449193	chr20:40842425-40842426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs571043228	chr20:40842450-40842451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540142989	chr20:40842458-40842459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552525858	chr20:40842485-40842486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs572511061	chr20:40842551-40842552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541486461	chr20:40842556-40842557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192150160	chr20:40842586-40842587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs371610474	chr20:40842647-40842648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs575347413	chr20:40842690-40842691	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148212204	chr20:40842693-40842694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs185726991	chr20:40842743-40842744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577815232	chr20:40842802-40842803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs141532674	chr20:40842852-40842853	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535524813	chr20:40842890-40842891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146170241	chr20:40842906-40842907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs534406738	chr20:40842922-40842923	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374972906	chr20:40842926-40842927	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs114105631	chr20:40842932-40842933	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34222413	chr20:40842949-40842950	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs73268829	chr20:40843007-40843008	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs16986670	chr20:40843031-40843032	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs547918429	chr20:40843040-40843041	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs372592246	chr20:40843094-40843095	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112604048	chr20:40843116-40843117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs558052144	chr20:40843139-40843140	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs138498521	chr20:40843173-40843174	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs118154239	chr20:40843192-40843193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs566854507	chr20:40843307-40843308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs541776187	chr20:40843336-40843337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143056144	chr20:40843408-40843409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs57156010	chr20:40843471-40843472	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs139863925	chr20:40843505-40843506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60363989	chr20:40843510-40843511	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:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:40828000-40850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:40841200-40842600	Enhancers	Fetal Brain Female	brain
3	chr20:40841600-40843200	Enhancers	Fetal Brain Male	brain
4	chr20:40842600-40843000	Weak transcription	Fetal Brain Female	brain
5	chr20:40843000-40843200	Enhancers	Fetal Brain Female	brain
6	chr20:40843200-40847000	Weak transcription	Fetal Brain Male	brain
7	chr20:40843200-40847200	Weak transcription	Fetal Brain Female	brain

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