Variant report

Variant	esv2755330
Chromosome Location	chr20:24114903-24130700
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr20:24128975-24129495	GM12878	blood:	n/a	n/a
2	BHLHE40	chr20:24129055-24129401	K562	blood:	n/a	n/a
3	CEBPB	chr20:24117508-24117661	HepG2	liver:	n/a	n/a
4	CEBPB	chr20:24127059-24127398	HepG2	liver:	n/a	chr20:24127230-24127241 chr20:24127228-24127241 chr20:24127228-24127239
5	CTCF	chr20:24130666-24130982	IMR90	lung:	n/a	n/a
6	CTCF	chr20:24130673-24130954	MCF-7	breast:	n/a	n/a
7	CTCF	chr20:24130698-24130894	HepG2	liver:	n/a	n/a
8	CTCF	chr20:24121780-24121930	GM12878	blood:	n/a	n/a
9	CTCF	chr20:24130660-24130810	RPTEC	kidney:	n/a	n/a
10	CTCF	chr20:24121740-24121890	GM12873	blood:	n/a	n/a
11	CTCF	chr20:24121700-24121850	GM12867	blood:	n/a	n/a
12	CTCF	chr20:24130694-24130935	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr20:24130654-24131073	K562	blood:	n/a	n/a
14	CTCF	chr20:24130689-24130886	A549	lung:	n/a	n/a
15	CTCF	chr20:24130655-24131018	K562	blood:	n/a	n/a
16	CTCF	chr20:24130700-24130850	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr20:24130680-24130830	HA-sp	spinal cord:	n/a	n/a
18	CTCF	chr20:24130680-24130958	MCF-7	breast:	n/a	n/a
19	CTCF	chr20:24121680-24121830	GM12866	blood:	n/a	n/a
20	CTCF	chr20:24114900-24115050	HEEpiC	esophagus:	n/a	n/a
21	CTCF	chr20:24130680-24130830	HEK293	kidney:	n/a	n/a
22	CTCF	chr20:24130606-24131042	MCF-7	breast:	n/a	n/a
23	CTCF	chr20:24130686-24130926	Medullo	brain:	n/a	n/a
24	CTCF	chr20:24121660-24121810	GM12878	blood:	n/a	n/a
25	CTCF	chr20:24121720-24121870	HBMEC	blood vessel:	n/a	n/a
26	CTCF	chr20:24130673-24130971	Fibrobl	skin:	n/a	n/a
27	CTCF	chr20:24130585-24131025	K562	blood:	n/a	n/a
28	CTCF	chr20:24130535-24131062	MCF-7	breast:	n/a	n/a
29	CTCF	chr20:24130700-24130850	AoAF	blood vessel:	n/a	n/a
30	CTCF	chr20:24121760-24121910	GM12871	blood:	n/a	n/a
31	CTCF	chr20:24129453-24131227	A549	lung:	n/a	n/a
32	CTCF	chr20:24121790-24121809	HepG2	liver:	n/a	n/a
33	CTCF	chr20:24122460-24122610	A549	lung:	n/a	chr20:24122480-24122498
34	CTCF	chr20:24130699-24130952	LNCaP	prostate:	n/a	n/a
35	CTCF	chr20:24130540-24130600	MCF-7	breast:	n/a	n/a
36	CTCF	chr20:24130621-24131019	GM12878	blood:	n/a	n/a
37	CTCF	chr20:24130700-24130850	GM12866	blood:	n/a	n/a
38	CTCF	chr20:24121840-24121990	GM12864	blood:	n/a	n/a
39	CTCF	chr20:24130660-24130810	GM12868	blood:	n/a	n/a
40	CTCF	chr20:24121700-24121850	GM12865	blood:	n/a	n/a
41	CTCF	chr20:24121660-24121810	GM12872	blood:	n/a	n/a
42	CTCF	chr20:24121360-24121510	GM12866	blood:	n/a	n/a
43	CTCF	chr20:24115033-24115056	Lung_OC	lung:	n/a	n/a
44	CTCF	chr20:24126859-24126975	NHEK	skin:	n/a	n/a
45	CTCF	chr20:24130680-24130830	GM12872	blood:	n/a	n/a
46	CTCF	chr20:24130660-24130810	HAc	cerebellar:	n/a	n/a
47	CTCF	chr20:24121680-24121830	K562	blood:	n/a	n/a
48	CTCF	chr20:24130580-24130730	A549	lung:	n/a	n/a
49	CTCF	chr20:24130687-24130952	MCF-7	breast:	n/a	n/a
50	CTCF	chr20:24121740-24121890	GM12872	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:24115388..24117970-chr20:24118371..24122645,4	MCF-7	breast:
2	chr20:24115388..24117970-chr20:24118371..24122645,4	MCF-7	breast:
3	chr20:24113587..24115337-chr20:24123688..24125826,2	MCF-7	breast:
4	chr20:24112072..24114906-chr20:24115605..24118020,3	MCF-7	breast:
5	chr20:24112072..24114906-chr20:24115605..24118020,3	MCF-7	breast:
6	chr20:24111886..24113648-chr20:24113789..24115599,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SYNDIG1-6	chr20:24128403-24128470	NONHSAT079102

No data

Variant related genes	Relation type
ENSG00000236151	TF binding region
ENSG00000236151	chromatin interactions

Extended variants
information (count: 734 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:734 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6138213	chr20:24114903-24114904	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186950927	chr20:24114931-24114932	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs569450063	chr20:24114966-24114967	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs373139186	chr20:24114970-24114971	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs547037186	chr20:24114971-24114972	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564111791	chr20:24115011-24115012	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs532860917	chr20:24115050-24115051	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75689325	chr20:24115060-24115061	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs190486103	chr20:24115062-24115063	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs151297946	chr20:24115063-24115064	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs375676164	chr20:24115079-24115080	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs371163805	chr20:24115080-24115081	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs549178185	chr20:24115151-24115152	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs573301384	chr20:24115181-24115182	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs377559264	chr20:24115228-24115229	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145165881	chr20:24115319-24115320	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs534922619	chr20:24115352-24115353	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs553879471	chr20:24115360-24115361	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs138184450	chr20:24115372-24115373	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs539922822	chr20:24115378-24115379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369844059	chr20:24115387-24115388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs373361405	chr20:24115399-24115400	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556720200	chr20:24115404-24115405	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs374545721	chr20:24115409-24115410	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs555317344	chr20:24115432-24115433	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs576629820	chr20:24115437-24115438	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs542022155	chr20:24115440-24115441	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs182694842	chr20:24115459-24115460	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs572603828	chr20:24115511-24115512	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs541755620	chr20:24115524-24115525	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs4815268	chr20:24115533-24115534	Enhancers Weak transcription Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs544465308	chr20:24115602-24115603	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs532792242	chr20:24115610-24115611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549387440	chr20:24115616-24115617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563011131	chr20:24115648-24115649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs143883993	chr20:24115653-24115654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548859514	chr20:24115658-24115659	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs565916005	chr20:24115698-24115699	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534605734	chr20:24115705-24115706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs551690556	chr20:24115712-24115713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533897333	chr20:24115817-24115818	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570834895	chr20:24115827-24115828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs370701153	chr20:24115842-24115843	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539812226	chr20:24115849-24115850	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556609995	chr20:24115877-24115878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs6138214	chr20:24115883-24115884	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs147242876	chr20:24115901-24115902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs570665210	chr20:24115904-24115905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140825262	chr20:24115922-24115923	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572639830	chr20:24115930-24115931	Enhancers Weak transcription	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
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
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24111000-24117200	Enhancers	Placenta Amnion	Placenta Amnion
2	chr20:24111400-24117200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr20:24111400-24120400	Enhancers	Placenta	Placenta
4	chr20:24111600-24115800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr20:24111600-24119600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr20:24111800-24115600	Enhancers	HMEC	breast
7	chr20:24111800-24116400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr20:24112000-24115000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr20:24112800-24115000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr20:24113000-24115000	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr20:24113000-24115000	Weak transcription	Pancreas	Pancrea
12	chr20:24113000-24117600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:24113200-24116000	Enhancers	NHEK	skin
14	chr20:24113600-24115000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr20:24113800-24115000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr20:24114400-24115400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr20:24114800-24115000	Enhancers	Right Atrium	heart
18	chr20:24114800-24115200	Enhancers	H9 Cell Line	embryonic stem cell
19	chr20:24114800-24115200	Enhancers	HUVEC	blood vessel
20	chr20:24114800-24115400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr20:24114800-24115400	Enhancers	Fetal Stomach	stomach
22	chr20:24114800-24115600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr20:24114800-24115600	Enhancers	Esophagus	oesophagus
24	chr20:24114800-24115600	Enhancers	Fetal Muscle Leg	muscle
25	chr20:24114800-24115800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr20:24114800-24119800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:24115000-24115200	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr20:24115000-24115200	Enhancers	Primary T cells fromperipheralblood	blood
29	chr20:24115000-24115200	Enhancers	Pancreas	Pancrea
30	chr20:24115000-24115400	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr20:24115000-24115400	Enhancers	Fetal Muscle Trunk	muscle
32	chr20:24115000-24115600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr20:24115000-24116000	Weak transcription	Right Atrium	heart
34	chr20:24115200-24115600	Weak transcription	Pancreas	Pancrea
35	chr20:24115200-24116000	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr20:24115400-24115600	Bivalent Enhancer	Fetal Stomach	stomach
37	chr20:24115600-24115800	Enhancers	Pancreas	Pancrea
38	chr20:24115600-24116800	Weak transcription	Esophagus	oesophagus
39	chr20:24115600-24117400	Weak transcription	HMEC	breast
40	chr20:24115600-24119400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr20:24115800-24119000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr20:24115800-24121200	Weak transcription	Pancreas	Pancrea
43	chr20:24116000-24116400	Weak transcription	NHEK	skin
44	chr20:24116000-24117800	Enhancers	Primary T cells fromperipheralblood	blood
45	chr20:24116400-24116800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr20:24116400-24116800	Enhancers	Dnd41	blood
47	chr20:24116400-24117800	Enhancers	NHEK	skin
48	chr20:24116600-24117000	Active TSS	Spleen	Spleen
49	chr20:24116800-24117000	Enhancers	Esophagus	oesophagus
50	chr20:24116800-24117800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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