Variant report

Variant	esv3411629
Chromosome Location	chr20:23855752-23860150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 255 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:255 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577986281	chr20:23855774-23855775	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs545764723	chr20:23855814-23855815	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370394807	chr20:23855853-23855854	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs140949974	chr20:23855858-23855859	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143556657	chr20:23855866-23855867	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs146820567	chr20:23855875-23855876	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6049200	chr20:23855884-23855885	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs140571305	chr20:23855889-23855890	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs145797319	chr20:23855900-23855901	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572714077	chr20:23855914-23855915	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547491505	chr20:23855950-23855951	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs80007098	chr20:23855960-23855961	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs532978315	chr20:23855964-23855965	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561840812	chr20:23855973-23855974	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549488135	chr20:23855979-23855980	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184439422	chr20:23856023-23856024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs189916541	chr20:23856025-23856026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs62194758	chr20:23856029-23856030	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs565934449	chr20:23856065-23856066	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs534875043	chr20:23856108-23856109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs558245518	chr20:23856112-23856113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs145378412	chr20:23856120-23856121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537502243	chr20:23856133-23856134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113912147	chr20:23856176-23856177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550558429	chr20:23856195-23856196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574044717	chr20:23856205-23856206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs192623144	chr20:23856226-23856227	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542150720	chr20:23856239-23856240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs562394875	chr20:23856249-23856250	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs561936780	chr20:23856265-23856266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75018625	chr20:23856272-23856273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs78001899	chr20:23856273-23856274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs76968158	chr20:23856274-23856275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs149188932	chr20:23856292-23856293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs373807534	chr20:23856322-23856323	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs6049201	chr20:23856378-23856379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551301729	chr20:23856386-23856387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564236461	chr20:23856445-23856446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs532881942	chr20:23856451-23856452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs549405667	chr20:23856473-23856474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs201950445	chr20:23856508-23856509	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562953820	chr20:23856527-23856528	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528811528	chr20:23856533-23856534	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549285474	chr20:23856549-23856550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs117440485	chr20:23856551-23856552	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs375383971	chr20:23856569-23856570	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs535254884	chr20:23856574-23856575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs551680830	chr20:23856602-23856603	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs564973350	chr20:23856646-23856647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532052611	chr20:23856647-23856648	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Prostate cancer	18632612	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
small cell lung cancer	17426248	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23848800-23860400	Enhancers	Fetal Thymus	thymus
2	chr20:23851400-23859400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:23852400-23864800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr20:23852800-23858200	Enhancers	Dnd41	blood
5	chr20:23853400-23856800	Enhancers	Thymus	Thymus
6	chr20:23854000-23855800	Enhancers	Primary T cells from cord blood	blood
7	chr20:23854600-23858200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr20:23854800-23860600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr20:23855200-23856000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
10	chr20:23855200-23856000	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr20:23855200-23857600	Enhancers	Stomach Smooth Muscle	stomach
12	chr20:23855400-23855800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr20:23855400-23858000	Weak transcription	Spleen	Spleen
14	chr20:23855400-23858200	Enhancers	Fetal Stomach	stomach
15	chr20:23855600-23855800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr20:23855600-23855800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr20:23855600-23855800	Enhancers	Fetal Intestine Large	intestine
18	chr20:23855600-23856600	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:23855600-23856800	Enhancers	Rectal Smooth Muscle	rectum
20	chr20:23855800-23857400	Enhancers	Colon Smooth Muscle	Colon
21	chr20:23856800-23857800	Weak transcription	Rectal Smooth Muscle	rectum
22	chr20:23857400-23860600	Weak transcription	Colon Smooth Muscle	Colon
23	chr20:23857600-23858000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr20:23857600-23858200	Weak transcription	Fetal Intestine Large	intestine
25	chr20:23857800-23858000	Enhancers	Rectal Smooth Muscle	rectum
26	chr20:23858000-23858200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr20:23858000-23858200	Flanking Active TSS	Spleen	Spleen
28	chr20:23858000-23858600	Enhancers	Stomach Smooth Muscle	stomach
29	chr20:23858000-23859600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr20:23858200-23858600	Bivalent Enhancer	Fetal Stomach	stomach
31	chr20:23858200-23859600	Enhancers	HMEC	breast
32	chr20:23858200-23862800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr20:23859200-23859400	Enhancers	NHEK	skin
34	chr20:23859200-23859600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr20:23859200-23861800	Enhancers	Lung	lung
36	chr20:23859400-23859600	Bivalent Enhancer	Fetal Stomach	stomach
37	chr20:23859400-23859600	Flanking Active TSS	Spleen	Spleen
38	chr20:23859400-23860000	Bivalent Enhancer	HepG2	liver
39	chr20:23859400-23860800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr20:23859400-23861400	Enhancers	Placenta Amnion	Placenta Amnion
41	chr20:23859400-23862400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr20:23859600-23860200	Active TSS	Spleen	Spleen
43	chr20:23859600-23860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:23859600-23860600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr20:23859600-23860600	Weak transcription	HMEC	breast
46	chr20:23859800-23861000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr20:23859800-23862400	Enhancers	Pancreas	Pancrea
48	chr20:23860000-23860800	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr20:23860000-23861200	Weak transcription	NHEK	skin
50	chr20:23860000-23861600	Enhancers	Rectal Smooth Muscle	rectum

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