Variant report

Variant	esv1009247
Chromosome Location	chr20:24411777-24412973
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:82 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112642819	chr20:24411796-24411797	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs111746786	chr20:24411799-24411800	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs539277551	chr20:24411803-24411804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs73610801	chr20:24411839-24411840	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs371911807	chr20:24411850-24411851	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs113181819	chr20:24411853-24411854	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs112033721	chr20:24411873-24411874	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs67347263	chr20:24411883-24411884	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs11472334	chr20:24411918-24411919	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs139288526	chr20:24411939-24411940	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs115171921	chr20:24411941-24411942	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs115942839	chr20:24411945-24411946	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs71335913	chr20:24411985-24411986	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs11472335	chr20:24412003-24412004	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs141033117	chr20:24412026-24412027	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs377605166	chr20:24412033-24412034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs111648511	chr20:24412037-24412038	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs112850107	chr20:24412041-24412042	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs111932127	chr20:24412060-24412061	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs182893067	chr20:24412070-24412071	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs187192797	chr20:24412074-24412075	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs146103966	chr20:24412081-24412082	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs145655842	chr20:24412091-24412092	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs563802732	chr20:24412139-24412140	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs201035017	chr20:24412164-24412165	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs549791762	chr20:24412174-24412175	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs569424078	chr20:24412215-24412216	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs34059690	chr20:24412218-24412219	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs546041725	chr20:24412236-24412237	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs564706427	chr20:24412239-24412240	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs73339918	chr20:24412267-24412268	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs374832682	chr20:24412290-24412291	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs386813485	chr20:24412305-24412306	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs34703171	chr20:24412315-24412316	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs113428501	chr20:24412326-24412327	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs112681481	chr20:24412340-24412341	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs113080772	chr20:24412370-24412371	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs532075214	chr20:24412374-24412375	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs373902130	chr20:24412376-24412377	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs113239547	chr20:24412387-24412388	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs368052043	chr20:24412392-24412393	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs199681675	chr20:24412400-24412401	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs34212333	chr20:24412432-24412433	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534503803	chr20:24412438-24412439	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs558123517	chr20:24412461-24412462	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs565321231	chr20:24412487-24412488	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs77437787	chr20:24412554-24412555	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs9753648	chr20:24412566-24412567	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs547485866	chr20:24412587-24412588	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs28735237	chr20:24412598-24412599	Enhancers Weak transcription Bivalent Enhancer	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
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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24401200-24412400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:24407200-24412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr20:24407600-24413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr20:24410800-24413600	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr20:24411200-24412400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr20:24411400-24411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr20:24411400-24411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr20:24411400-24412400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr20:24411600-24412200	Enhancers	Fetal Stomach	stomach
10	chr20:24411600-24412600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr20:24411600-24412800	Enhancers	Gastric	stomach
12	chr20:24411600-24412800	Enhancers	Lung	lung
13	chr20:24411800-24412600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:24411800-24412600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr20:24411800-24412800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr20:24411800-24413600	Enhancers	Stomach Mucosa	stomach
17	chr20:24412200-24412600	Bivalent Enhancer	Fetal Stomach	stomach
18	chr20:24412200-24413600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr20:24412400-24412800	Enhancers	Duodenum Mucosa	Duodenum
20	chr20:24412400-24413000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr20:24412400-24413400	Enhancers	Fetal Intestine Small	intestine
22	chr20:24412400-24413400	Enhancers	Fetal Lung	lung
23	chr20:24412400-24413400	Enhancers	HepG2	liver
24	chr20:24412400-24413600	Enhancers	Fetal Intestine Large	intestine
25	chr20:24412400-24423400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr20:24412600-24412800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr20:24412600-24413000	Enhancers	Fetal Stomach	stomach
28	chr20:24412600-24413200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr20:24412600-24423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr20:24412800-24413000	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr20:24412800-24413000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
32	chr20:24412800-24413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr20:24412800-24417000	Weak transcription	Cortex derived primary cultured neurospheres	brain

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