Variant report

Variant	rs4753468
Chromosome Location	chr11:93276674-93276675
allele	C/G
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	YY1	chr11:93276410-93276777	GM12891	blood:	n/a	chr11:93276497-93276506 chr11:93276537-93276551 chr11:93276651-93276662 chr11:93276492-93276506
2	POLR2A	chr11:93276285-93276844	Gliobla	brain:	n/a	n/a
3	YY1	chr11:93276419-93277008	GM12878	blood:	n/a	chr11:93276497-93276506 chr11:93276537-93276551 chr11:93276651-93276662 chr11:93276492-93276506
4	RAD21	chr11:93275592-93277010	H1-hESC	embryonic stem cell:	n/a	chr11:93276580-93276593
5	EGR1	chr11:93276288-93277107	HCT-116	colon:	n/a	chr11:93276538-93276547 chr11:93276634-93276644 chr11:93276658-93276671 chr11:93276300-93276313 chr11:93276655-93276669 chr11:93276658-93276671 chr11:93276657-93276672 chr11:93276634-93276647 chr11:93276717-93276727
6	SMC3	chr11:93276195-93277211	Hela-S3	cervix:	n/a	chr11:93276581-93276595
7	HA-E2F1	chr11:93276058-93276980	Hela-S3	cervix:	n/a	chr11:93276654-93276666 chr11:93276159-93276169 chr11:93276634-93276644 chr11:93276240-93276249 chr11:93276498-93276508 chr11:93276114-93276126
8	HDAC2	chr11:93276446-93276753	HepG2	liver:	n/a	chr11:93276543-93276552 chr11:93276539-93276548
9	CTCF	chr11:93276435-93276728	Pancreas_OC	pancreas:	n/a	chr11:93276581-93276594
10	CTCF	chr11:93276466-93276741	K562	blood:	n/a	chr11:93276581-93276594
11	CTCF	chr11:93276460-93276755	A549	lung:	n/a	chr11:93276581-93276594
12	RAD21	chr11:93276484-93276678	K562	blood:	n/a	chr11:93276580-93276593
13	GATA3	chr11:93276419-93276856	T-47D	breast:	n/a	n/a
14	RAD21	chr11:93276420-93276989	HepG2	liver:	n/a	chr11:93276580-93276593
15	CTCF	chr11:93276540-93276690	AoAF	blood vessel:	n/a	chr11:93276581-93276594
16	EBF1	chr11:93276441-93276743	GM12878	blood:	n/a	n/a
17	CTCF	chr11:93276580-93276730	AG09319	gingival:	n/a	chr11:93276581-93276594
18	POLR2A	chr11:93276398-93276856	ECC-1	luminal epithelium:	n/a	n/a
19	TBP	chr11:93276569-93276820	HepG2	liver:	n/a	n/a
20	CTCF	chr11:93276580-93276730	AG10803	skin:	n/a	chr11:93276581-93276594
21	EGR1	chr11:93276452-93276816	GM12878	blood:	n/a	chr11:93276538-93276547 chr11:93276634-93276644 chr11:93276658-93276671 chr11:93276655-93276669 chr11:93276658-93276671 chr11:93276657-93276672 chr11:93276634-93276647 chr11:93276717-93276727
22	CTCF	chr11:93276444-93276752	GM19240	blood:	n/a	chr11:93276581-93276594
23	POLR2A	chr11:93276156-93276751	IMR90	lung:	n/a	n/a
24	HDAC2	chr11:93276424-93276849	K562	blood:	n/a	chr11:93276543-93276552 chr11:93276539-93276548
25	CTCF	chr11:93276479-93276765	A549	lung:	n/a	chr11:93276581-93276594
26	POLR2A	chr11:93276408-93276829	GM12878	blood:	n/a	n/a
27	CTCF	chr11:93276388-93276996	IMR90	lung:	n/a	chr11:93276581-93276594
28	CTCF	chr11:93276540-93276690	AG04450	lung:	n/a	chr11:93276581-93276594
29	YY1	chr11:93276249-93276876	HepG2	liver:	n/a	chr11:93276497-93276506 chr11:93276537-93276551 chr11:93276651-93276662 chr11:93276492-93276506
30	HCFC1	chr11:93276397-93276824	K562	blood:	n/a	n/a
31	RCOR1	chr11:93276415-93277038	GM12878	blood:	n/a	n/a
32	EBF1	chr11:93276488-93276752	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:93276174-93276891	A549	lung:	n/a	n/a
34	POLR2A	chr11:93276403-93276881	K562	blood:	n/a	n/a
35	TAF1	chr11:93276426-93276675	SK-N-SH	brain:	n/a	n/a
36	NR2F2	chr11:93276521-93277058	K562	blood:	n/a	n/a
37	POLR2A	chr11:93275588-93277036	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr11:93276560-93276710	HRPEpiC	eye:	n/a	chr11:93276581-93276594
39	CTCF	chr11:93276509-93276687	HepG2	liver:	n/a	chr11:93276581-93276594
40	CREB1	chr11:93276398-93277017	HepG2	liver:	n/a	n/a
41	MYC	chr11:93276119-93276968	K562	blood:	n/a	chr11:93276658-93276668
42	CTCF	chr11:93276374-93276749	K562	blood:	n/a	chr11:93276581-93276594
43	CTCF	chr11:93276424-93276801	H1-hESC	embryonic stem cell:	n/a	chr11:93276581-93276594
44	EGR1	chr11:93276439-93277070	HCT-116	colon:	n/a	chr11:93276538-93276547 chr11:93276634-93276644 chr11:93276658-93276671 chr11:93276655-93276669 chr11:93276658-93276671 chr11:93276657-93276672 chr11:93276634-93276647 chr11:93276717-93276727
45	MXI1	chr11:93276454-93276870	GM12878	blood:	n/a	n/a
46	EGR1	chr11:93276489-93276924	ECC-1	luminal epithelium:	n/a	chr11:93276538-93276547 chr11:93276634-93276644 chr11:93276658-93276671 chr11:93276655-93276669 chr11:93276658-93276671 chr11:93276657-93276672 chr11:93276634-93276647 chr11:93276717-93276727
47	CTCF	chr11:93276540-93276690	AG04449	skin:	n/a	chr11:93276581-93276594
48	ELF1	chr11:93276413-93276984	K562	blood:	n/a	chr11:93276492-93276504
49	POLR2A	chr11:93276147-93276901	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr11:93276222-93277209	A549	lung:	n/a	chr11:93276581-93276594

No.	Distal block	Cell Line	Cell type
1	chr11:93274349..93277500-chr11:93472599..93475364,3	K562	blood:
2	chr11:93275932..93276674-chr9:128003209..128003773,2	Hela-S3	cervix:
3	chr11:93276670..93279805-chr11:93289602..93292268,3	K562	blood:
4	chr11:93276206..93276741-chr12:56551625..56552456,2	Hela-S3	cervix:

Variant related genes	Relation type
SMCO4	TF binding region
ENSG00000257809	Chromatin interaction
ENSG00000044574	Chromatin interaction
ENSG00000240202	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000092841	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12223863	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12416843	0.81[AMR][1000 genomes]
rs2399676	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2895470	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2895472	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4753471	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7125151	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7126188	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7128507	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1039623	chr11:93141461-93328739	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:93275000-93277200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr11:93275200-93276800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr11:93275200-93276800	Active TSS	Brain Angular Gyrus	brain
4	chr11:93275200-93276800	Active TSS	Rectal Smooth Muscle	rectum
5	chr11:93275200-93277000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:93275200-93277000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:93275200-93277200	Active TSS	Right Ventricle	heart
8	chr11:93275400-93276800	Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr11:93275400-93276800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:93275400-93276800	Active TSS	Brain Anterior Caudate	brain
11	chr11:93275400-93276800	Active TSS	Brain Substantia Nigra	brain
12	chr11:93275400-93276800	Active TSS	Ovary	ovary
13	chr11:93275400-93276800	Active TSS	Psoas Muscle	Psoas
14	chr11:93275400-93276800	Active TSS	Small Intestine	intestine
15	chr11:93275400-93277000	Active TSS	Primary T killer memory cells from peripheral blood	blood
16	chr11:93275400-93277200	Active TSS	Fetal Kidney	kidney
17	chr11:93275400-93277200	Active TSS	Gastric	stomach
18	chr11:93275600-93276800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:93275600-93276800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr11:93275600-93276800	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr11:93275600-93276800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr11:93275600-93276800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr11:93275600-93276800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:93275600-93276800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:93275600-93276800	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:93275600-93276800	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:93275600-93276800	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr11:93275600-93276800	Active TSS	Fetal Intestine Small	intestine
29	chr11:93275600-93276800	Active TSS	Fetal Stomach	stomach
30	chr11:93275600-93276800	Active TSS	Left Ventricle	heart
31	chr11:93275600-93276800	Active TSS	Lung	lung
32	chr11:93275600-93276800	Active TSS	Pancreas	Pancrea
33	chr11:93275600-93276800	Active TSS	Stomach Smooth Muscle	stomach
34	chr11:93275600-93276800	Active TSS	HepG2	liver
35	chr11:93275600-93276800	Active TSS	NH-A	brain
36	chr11:93275600-93276800	Active TSS	NHDF-Ad	bronchial
37	chr11:93275600-93276800	Active TSS	Osteobl	bone
38	chr11:93275600-93277000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr11:93275600-93277000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr11:93275600-93277000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:93275600-93277000	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr11:93275600-93277000	Active TSS	Colon Smooth Muscle	Colon
43	chr11:93275600-93277000	Active TSS	Placenta Amnion	Placenta Amnion
44	chr11:93275600-93277000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr11:93275600-93277000	Active TSS	HSMM	muscle
46	chr11:93275600-93277200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:93275600-93277200	Active TSS	Aorta	Aorta
48	chr11:93275600-93277200	Active TSS	Liver	Liver
49	chr11:93275600-93277200	Active TSS	A549	lung
50	chr11:93275600-93277200	Active TSS	HSMMtube	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links