Variant report

Variant	esv1818545
Chromosome Location	chr20:24411255-24422253
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr20:24415845-24416289	GM12878	blood:	n/a	n/a
2	BCL3	chr20:24415916-24416156	GM12878	blood:	n/a	n/a
3	CEBPB	chr20:24413312-24413524	A549	lung:	n/a	n/a
4	CEBPB	chr20:24413325-24413519	HepG2	liver:	n/a	n/a
5	CTCF	chr20:24412630-24412963	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr20:24412620-24412770	SAEC	small airway:	n/a	n/a
7	CTCF	chr20:24412680-24412830	BE2_C	brain:	n/a	n/a
8	CTCF	chr20:24414463-24414478	GM10248	blood:	n/a	n/a
9	CTCF	chr20:24412603-24412891	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr20:24412760-24412910	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr20:24412680-24412830	HepG2	liver:	n/a	n/a
12	CTCF	chr20:24412660-24412810	GM12871	blood:	n/a	n/a
13	CTCF	chr20:24412700-24412850	HepG2	liver:	n/a	n/a
14	CTCF	chr20:24412752-24412763	MCF-7	breast:	n/a	n/a
15	CTCF	chr20:24412740-24412890	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr20:24412700-24412850	HAc	cerebellar:	n/a	n/a
17	CTCF	chr20:24414479-24414482	GM10248	blood:	n/a	n/a
18	CTCF	chr20:24412800-24412950	GM12869	blood:	n/a	n/a
19	CTCF	chr20:24412640-24412790	GM06990	blood:	n/a	n/a
20	CTCF	chr20:24412660-24412810	GM12869	blood:	n/a	n/a
21	CTCF	chr20:24412720-24412870	GM12873	blood:	n/a	n/a
22	CTCF	chr20:24412520-24412670	A549	lung:	n/a	n/a
23	CTCF	chr20:24412820-24412970	GM12871	blood:	n/a	n/a
24	CTCF	chr20:24412671-24412928	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr20:24412640-24412790	HA-sp	spinal cord:	n/a	n/a
26	CTCF	chr20:24412720-24412870	HEK293	kidney:	n/a	n/a
27	CTCF	chr20:24412700-24412850	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr20:24412700-24412850	A549	lung:	n/a	n/a
29	CTCF	chr20:24412700-24412850	HCPEpiC	choroid plexus:	n/a	n/a
30	CTCF	chr20:24414494-24414507	GM10248	blood:	n/a	n/a
31	CTCF	chr20:24411350-24411418	GM10248	blood:	n/a	n/a
32	CTCF	chr20:24412840-24412990	Caco-2	colon:	n/a	n/a
33	CTCF	chr20:24412580-24412730	RPTEC	kidney:	n/a	n/a
34	HNF4A	chr20:24412785-24413037	HepG2	liver:	n/a	chr20:24412949-24412964 chr20:24412949-24412964 chr20:24412950-24412962 chr20:24412950-24412962 chr20:24412950-24412958
35	HNF4A	chr20:24412698-24412988	HepG2	liver:	n/a	chr20:24412949-24412964 chr20:24412949-24412964 chr20:24412950-24412962 chr20:24412950-24412962 chr20:24412950-24412958
36	JUN	chr20:24412851-24413007	H1-hESC	embryonic stem cell:	n/a	n/a
37	MAFF	chr20:24420006-24420126	HepG2	liver:	n/a	chr20:24420046-24420064
38	MAFK	chr20:24419985-24420198	HepG2	liver:	n/a	chr20:24420050-24420064
39	MAFK	chr20:24419921-24420206	HepG2	liver:	n/a	chr20:24420050-24420064
40	MAX	chr20:24416194-24416377	NB4	blood:	n/a	n/a
41	MYC	chr20:24416103-24416108	MCF-7	breast:	n/a	n/a
42	MYC	chr20:24416116-24416333	MCF-7	breast:	n/a	n/a
43	MYC	chr20:24416249-24416269	MCF-7	breast:	n/a	n/a
44	MYC	chr20:24416385-24416391	MCF-7	breast:	n/a	n/a
45	PBX3	chr20:24415946-24416255	GM12878	blood:	n/a	n/a
46	POLR2A	chr20:24411489-24411682	ProgFib	skin:	n/a	n/a
47	POLR2A	chr20:24418039-24418110	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr20:24416322-24416323	A549	lung:	n/a	n/a
49	POLR2A	chr20:24416237-24416320	A549	lung:	n/a	n/a
50	POLR2A	chr20:24422086-24422369	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:24420874..24424389-chr20:24442088..24445319,3	MCF-7	breast:

Variant related genes	Relation type
GAPDHP53	TF binding region

Extended variants
information (count: 548 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:548 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6114720	chr20:24411255-24411256	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs146746616	chr20:24411269-24411270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs113114468	chr20:24411279-24411280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371043802	chr20:24411288-24411289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs140381754	chr20:24411309-24411310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13039397	chr20:24411312-24411313	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs577226323	chr20:24411319-24411320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184164788	chr20:24411342-24411343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs542067032	chr20:24411376-24411377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs74441990	chr20:24411385-24411386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115103905	chr20:24411400-24411401	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs115467481	chr20:24411445-24411446	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs74201192	chr20:24411462-24411463	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs200342695	chr20:24411513-24411514	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs541626499	chr20:24411541-24411542	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs201444330	chr20:24411559-24411560	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs199572820	chr20:24411568-24411569	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs112386403	chr20:24411575-24411576	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs188764746	chr20:24411591-24411592	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs112855874	chr20:24411651-24411652	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs113936323	chr20:24411653-24411654	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs200640763	chr20:24411665-24411666	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs35341442	chr20:24411692-24411693	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs111505178	chr20:24411705-24411706	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs112642819	chr20:24411796-24411797	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs111746786	chr20:24411799-24411800	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs539277551	chr20:24411803-24411804	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs73610801	chr20:24411839-24411840	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs371911807	chr20:24411850-24411851	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs113181819	chr20:24411853-24411854	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs112033721	chr20:24411873-24411874	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs67347263	chr20:24411883-24411884	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs11472334	chr20:24411918-24411919	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs139288526	chr20:24411939-24411940	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs115171921	chr20:24411941-24411942	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs115942839	chr20:24411945-24411946	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs71335913	chr20:24411985-24411986	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs11472335	chr20:24412003-24412004	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs141033117	chr20:24412026-24412027	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs377605166	chr20:24412033-24412034	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs111648511	chr20:24412037-24412038	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs112850107	chr20:24412041-24412042	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs111932127	chr20:24412060-24412061	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs182893067	chr20:24412070-24412071	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs187192797	chr20:24412074-24412075	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs146103966	chr20:24412081-24412082	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs145655842	chr20:24412091-24412092	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs563802732	chr20:24412139-24412140	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs201035017	chr20:24412164-24412165	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs549791762	chr20:24412174-24412175	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24401200-24412400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr20:24403400-24411400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:24407200-24412600	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr20:24407400-24411600	Weak transcription	Fetal Stomach	stomach
5	chr20:24407600-24413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr20:24410800-24413600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr20:24411200-24412400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr20:24411400-24411600	Bivalent Enhancer	Lung	lung
9	chr20:24411400-24411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:24411400-24411800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr20:24411400-24412400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:24411600-24412200	Enhancers	Fetal Stomach	stomach
13	chr20:24411600-24412600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr20:24411600-24412800	Enhancers	Gastric	stomach
15	chr20:24411600-24412800	Enhancers	Lung	lung
16	chr20:24411800-24412600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr20:24411800-24412600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr20:24411800-24412800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr20:24411800-24413600	Enhancers	Stomach Mucosa	stomach
20	chr20:24412200-24412600	Bivalent Enhancer	Fetal Stomach	stomach
21	chr20:24412200-24413600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr20:24412400-24412800	Enhancers	Duodenum Mucosa	Duodenum
23	chr20:24412400-24413000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr20:24412400-24413400	Enhancers	Fetal Intestine Small	intestine
25	chr20:24412400-24413400	Enhancers	Fetal Lung	lung
26	chr20:24412400-24413400	Enhancers	HepG2	liver
27	chr20:24412400-24413600	Enhancers	Fetal Intestine Large	intestine
28	chr20:24412400-24423400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr20:24412600-24412800	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr20:24412600-24413000	Enhancers	Fetal Stomach	stomach
31	chr20:24412600-24413200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr20:24412600-24423600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr20:24412800-24413000	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr20:24412800-24413000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
35	chr20:24412800-24413200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:24412800-24417000	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr20:24413000-24413400	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr20:24413000-24413800	Enhancers	Fetal Kidney	kidney
39	chr20:24413000-24414200	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:24413000-24416600	Weak transcription	Fetal Stomach	stomach
41	chr20:24413400-24416800	Weak transcription	Fetal Intestine Small	intestine
42	chr20:24413600-24414000	Weak transcription	Fetal Intestine Large	intestine
43	chr20:24413600-24417400	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr20:24413800-24417000	Weak transcription	Fetal Kidney	kidney
45	chr20:24414000-24414200	Enhancers	Fetal Intestine Large	intestine
46	chr20:24414200-24416400	Weak transcription	Fetal Intestine Large	intestine
47	chr20:24415800-24418600	Enhancers	Fetal Muscle Leg	muscle
48	chr20:24416000-24419200	Enhancers	Fetal Brain Male	brain
49	chr20:24416200-24416400	Enhancers	Brain Inferior Temporal Lobe	brain
50	chr20:24416400-24416800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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