Variant report

Variant	esv3329111
Chromosome Location	chr20:24412591-24412994
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs28735237	chr20:24412598-24412599	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs201669592	chr20:24412600-24412601	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs577996550	chr20:24412606-24412607	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs200687558	chr20:24412612-24412613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs115083995	chr20:24412613-24412614	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs200064596	chr20:24412616-24412617	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201189869	chr20:24412618-24412619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs9753650	chr20:24412628-24412629	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs77772048	chr20:24412631-24412632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376419481	chr20:24412643-24412644	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115699093	chr20:24412644-24412645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs113896871	chr20:24412684-24412685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs199852459	chr20:24412698-24412699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs191689205	chr20:24412702-24412703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs556555223	chr20:24412713-24412714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs148355667	chr20:24412716-24412717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs183863455	chr20:24412735-24412736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs74219365	chr20:24412756-24412757	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs527918106	chr20:24412790-24412791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs147082792	chr20:24412795-24412796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569813649	chr20:24412799-24412800	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs138581614	chr20:24412815-24412816	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs533408586	chr20:24412823-24412824	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs368407886	chr20:24412830-24412831	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs372602169	chr20:24412835-24412836	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs549383286	chr20:24412858-24412859	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs116190300	chr20:24412886-24412887	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs201664401	chr20:24412890-24412891	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs6138296	chr20:24412891-24412892	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs376037425	chr20:24412916-24412917	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs202131269	chr20:24412919-24412920	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs72623580	chr20:24412947-24412948	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs6049678	chr20:24412972-24412973	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs534865477	chr20:24412978-24412979	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs113326630	chr20:24412987-24412988	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs74173646	chr20:24412988-24412989	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:27 , 50 per page) page: 1

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

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