Variant report

Variant	esv1793063
Chromosome Location	chr20:13691562-13708788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:13705780..13708351-chr20:13714323..13716967,2	MCF-7	breast:
2	chr20:13700042..13702479-chr20:13702795..13705750,3	MCF-7	breast:
3	chr20:13700042..13702479-chr20:13702795..13705750,3	MCF-7	breast:
4	chr10:112678183..112678694-chr20:13694652..13695508,2	Hela-S3	cervix:

Extended variants
information (count: 667 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6042313	chr20:13691562-13691563	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs571868616	chr20:13691636-13691637	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192125959	chr20:13691639-13691640	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183977962	chr20:13691646-13691647	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs567884030	chr20:13691744-13691745	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs188520322	chr20:13691751-13691752	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs6105151	chr20:13691752-13691753	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs576467754	chr20:13691763-13691764	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538660473	chr20:13691891-13691892	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs2026058	chr20:13691900-13691901	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs140806468	chr20:13691902-13691903	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs563509647	chr20:13691983-13691984	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs541351893	chr20:13691985-13691986	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs143065655	chr20:13692003-13692004	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs574338657	chr20:13692005-13692006	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs543072860	chr20:13692006-13692007	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563045448	chr20:13692038-13692039	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529076918	chr20:13692045-13692046	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs6105152	chr20:13692130-13692131	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532102956	chr20:13692198-13692199	ZNF genes & repeats Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551899403	chr20:13692216-13692217	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192030300	chr20:13692230-13692231	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78875495	chr20:13692244-13692245	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs372478027	chr20:13692262-13692263	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs548153292	chr20:13692275-13692276	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184264749	chr20:13692277-13692278	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs536849934	chr20:13692367-13692368	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs550253099	chr20:13692377-13692378	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112251590	chr20:13692390-13692391	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538989664	chr20:13692417-13692418	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs6079143	chr20:13692422-13692423	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs148224984	chr20:13692436-13692437	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534609893	chr20:13692437-13692438	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs554451849	chr20:13692443-13692444	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs35536983	chr20:13692492-13692493	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574246757	chr20:13692517-13692518	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141938713	chr20:13692541-13692542	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs186983548	chr20:13692606-13692607	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs200045739	chr20:13692642-13692643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs576846436	chr20:13692647-13692648	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs545908528	chr20:13692653-13692654	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs191459017	chr20:13692658-13692659	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs112149869	chr20:13692715-13692716	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558539648	chr20:13692716-13692717	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs528127975	chr20:13692737-13692738	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs150253308	chr20:13692749-13692750	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs184504794	chr20:13692850-13692851	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571077283	chr20:13692903-13692904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs372157720	chr20:13692906-13692907	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs550415812	chr20:13692944-13692945	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Breast cancer	22522925	CNVD

Chromatin state (count:609 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13689000-13694400	Weak transcription	Primary B cells from cord blood	blood
2	chr20:13690000-13694000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr20:13690200-13696400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:13690400-13691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr20:13690400-13692800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr20:13690400-13697000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr20:13690600-13691600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr20:13690600-13694000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:13690600-13694000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr20:13690600-13695600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr20:13690600-13706200	Weak transcription	Pancreas	Pancrea
12	chr20:13690800-13691800	Weak transcription	Primary T cells from cord blood	blood
13	chr20:13691000-13691600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr20:13691000-13692600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr20:13691000-13692800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr20:13691000-13692800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr20:13691000-13693800	Weak transcription	Left Ventricle	heart
18	chr20:13691200-13692400	ZNF genes & repeats	Dnd41	blood
19	chr20:13691200-13692800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr20:13691200-13695400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr20:13691400-13692600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:13691400-13693600	Weak transcription	Fetal Intestine Large	intestine
23	chr20:13691400-13694000	Weak transcription	Duodenum Mucosa	Duodenum
24	chr20:13691400-13694200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr20:13691400-13694200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr20:13691400-13694200	Weak transcription	Rectal Mucosa Donor 29	rectum
27	chr20:13691400-13694200	Weak transcription	Osteobl	bone
28	chr20:13691400-13696000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr20:13691400-13696200	Weak transcription	Right Ventricle	heart
30	chr20:13691600-13692000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:13691600-13692000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr20:13691600-13692000	Weak transcription	Small Intestine	intestine
33	chr20:13691600-13692200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
34	chr20:13691600-13692200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
35	chr20:13691600-13692200	ZNF genes & repeats	A549	lung
36	chr20:13691600-13692400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
37	chr20:13691600-13694400	Weak transcription	HSMM	muscle
38	chr20:13691600-13694600	Weak transcription	NH-A	brain
39	chr20:13691600-13695000	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr20:13691600-13696000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:13691800-13692200	Strong transcription	Primary T cells from cord blood	blood
42	chr20:13691800-13692200	ZNF genes & repeats	Liver	Liver
43	chr20:13691800-13692200	ZNF genes & repeats	Brain Anterior Caudate	brain
44	chr20:13691800-13692200	ZNF genes & repeats	Fetal Lung	lung
45	chr20:13691800-13692600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr20:13691800-13694200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr20:13691800-13695400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr20:13691800-13699000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr20:13691800-13706200	Weak transcription	Aorta	Aorta
50	chr20:13691800-13708000	Weak transcription	Fetal Brain Male	brain

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