Variant report

Variant	rs1464484
Chromosome Location	chr11:33797162-33797163
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:33794953-33797412	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr11:33797131-33797463	GM12878	blood:	n/a	n/a
3	JUND	chr11:33797106-33797847	GM12878	blood:	n/a	n/a
4	CHD2	chr11:33797101-33797166	GM12878	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:33797161-33797211	AoSMC	blood vessel:	n/a
2	chr11:33797161-33797211	HCT-116	colon:	n/a
3	chr11:33797161-33797211	SK-N-MC	brain:	n/a
4	chr11:33797161-33797211	NT2-D1	testis:	n/a
5	chr11:33797161-33797211	SK-N-SH_RA	brain:	n/a
6	chr11:33797161-33797211	AG10803	skin:	n/a
7	chr11:33797161-33797211	MCF10A-Er-Src	breast:	n/a
8	chr11:33797161-33797211	K562	blood:	n/a
9	chr11:33797161-33797211	HCM	heart:	n/a
10	chr11:33797161-33797211	GM06990	blood:	n/a
11	chr11:33797161-33797211	Hela-S3	cervix:	n/a
12	chr11:33797161-33797211	HL-60	blood:	n/a
13	chr11:33797161-33797211	PANC-1	pancreas:	n/a
14	chr11:33797161-33797211	IMR90	lung:	fetal
15	chr11:33797161-33797211	GM12891	blood:	n/a
16	chr11:33797161-33797211	CMK	blood:	n/a
17	chr11:33797161-33797211	BJ	skin:	n/a
18	chr11:33797161-33797211	Caco-2	colon:	n/a
19	chr11:33797161-33797211	HRPEpiC	eye:	n/a
20	chr11:33797161-33797211	HUVEC	blood vessel:	n/a
21	chr11:33797161-33797211	HEEpiC	esophagus:	n/a
22	chr11:33797161-33797211	RPTEC	kidney:	n/a
23	chr11:33797161-33797211	ProgFib	skin:	n/a
24	chr11:33797161-33797211	PFSK-1	brain:	n/a
25	chr11:33797161-33797211	HPAEpiC	pulmonary alveolar:	n/a
26	chr11:33797161-33797211	NH-A	brain:	n/a
27	chr11:33797161-33797211	HNPCEpiC	eye:	n/a
28	chr11:33797161-33797211	ovcar-3	ovarian:	n/a
29	chr11:33797161-33797211	HepG2	liver:	n/a
30	chr11:33797161-33797211	GM12892	blood:	n/a
31	chr11:33797161-33797211	ECC-1	luminal epithelium:	n/a
32	chr11:33797161-33797211	MCF-7	breast:	n/a
33	chr11:33797161-33797211	Hepatocyte	liver:	n/a
34	chr11:33797161-33797211	T-47D	breast:	n/a
35	chr11:33797161-33797211	PrEC	prostate:	n/a
36	chr11:33797161-33797211	U87	brain:	n/a
37	chr11:33797161-33797211	AG04449	skin:	fetal
38	chr11:33797161-33797211	HMEC	breast:	n/a
39	chr11:33797161-33797211	AG04450	lung:	fetal
40	chr11:33797161-33797211	SK-N-SH	brain:	n/a
41	chr11:33797161-33797211	HRE	kidney:	n/a
42	chr11:33797161-33797211	AG09319	gingival:	n/a
43	chr11:33797161-33797211	SKMC	muscle:	n/a
44	chr11:33797161-33797211	LNCaP	prostate:	n/a
45	chr11:33797161-33797211	HEK293	kidney:	embryo
46	chr11:33797161-33797211	H1-hESC	embryonic stem cell:	embryo
47	chr11:33797161-33797211	NHDF-neo	bronchial:	n/a
48	chr11:33797161-33797211	GM19239	blood:	n/a
49	chr11:33797161-33797211	HRCEpiC	kidney:	n/a
50	chr11:33797161-33797211	HIPEpiC	eye:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:33757743..33759681-chr11:33794774..33797554,2	MCF-7	breast:
2	chr11:33756399..33761777-chr11:33794455..33799644,9	K562	blood:
3	chr11:33756496..33759717-chr11:33794342..33798618,4	K562	blood:
4	chr11:33720701..33723094-chr11:33794886..33797220,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C11orf41-2	chr11:33796994-33797216	ENSG00000254508.1
2	lnc-C11orf41-2	chr11:33796998-33797216	ENSG00000254508.1
3	lnc-C11orf41-2	chr11:33796800-33797428	NONHSAT018716
4	lnc-C11orf41-2	chr11:33796797-33797216	NONHSAT018717

No data

Variant related genes	Relation type
FBXO3	TF binding region
ENSG00000255272	TF binding region
FBXO3	CpG island
ENSG00000255272	CpG island
ENSG00000085063	Chromatin interaction
ENSG00000205177	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11032380	0.85[EUR][1000 genomes]
rs12282096	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361553	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1402957	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1464486	0.80[AMR][1000 genomes]
rs1464487	0.86[AMR][1000 genomes]
rs1522087	0.85[AMR][1000 genomes]
rs1578986	0.85[AMR][1000 genomes]
rs2056396	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2140066	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177123	0.84[ASN][1000 genomes]
rs2421209	0.83[ASN][1000 genomes]
rs2901376	0.85[AMR][1000 genomes]
rs4756031	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs704702	0.85[AMR][1000 genomes]
rs704703	0.85[AMR][1000 genomes]
rs7125621	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7927218	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs831594	0.85[AMR][1000 genomes]
rs939804	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs953871	0.86[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523356	chr11:33777334-33797408	Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:33795000-33797200	Active TSS	Aorta	Aorta
2	chr11:33796400-33798200	Flanking Active TSS	GM12878-XiMat	blood
3	chr11:33796600-33797200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:33796600-33797200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:33796600-33797200	Flanking Active TSS	Brain Angular Gyrus	brain
6	chr11:33796600-33797200	Flanking Active TSS	Colon Smooth Muscle	Colon
7	chr11:33796600-33797200	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
8	chr11:33796600-33797200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
9	chr11:33796600-33797200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr11:33796600-33797200	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr11:33796800-33797200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
12	chr11:33796800-33797200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:33796800-33797200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:33796800-33797200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr11:33796800-33797200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr11:33796800-33797200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
17	chr11:33796800-33797200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:33796800-33797200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:33796800-33797200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr11:33796800-33797200	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr11:33796800-33797200	Bivalent Enhancer	Fetal Intestine Small	intestine
22	chr11:33796800-33797200	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr11:33796800-33797200	Enhancers	Left Ventricle	heart
24	chr11:33796800-33797200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr11:33796800-33797200	Flanking Active TSS	Rectal Smooth Muscle	rectum
26	chr11:33796800-33797200	Enhancers	Small Intestine	intestine
27	chr11:33796800-33797200	Enhancers	Spleen	Spleen
28	chr11:33796800-33797200	Bivalent Enhancer	HUVEC	blood vessel
29	chr11:33796800-33797400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:33796800-33797400	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr11:33796800-33797400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr11:33796800-33797400	Bivalent Enhancer	Stomach Mucosa	stomach
33	chr11:33796800-33797600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:33796800-33797600	Enhancers	Liver	Liver
35	chr11:33796800-33797600	Enhancers	HMEC	breast
36	chr11:33796800-33797600	Enhancers	HSMM	muscle
37	chr11:33796800-33797600	Enhancers	HSMMtube	muscle
38	chr11:33796800-33797600	Enhancers	NH-A	brain
39	chr11:33796800-33797800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr11:33796800-33799800	Weak transcription	Right Atrium	heart
41	chr11:33796800-33799800	Weak transcription	Right Ventricle	heart
42	chr11:33797000-33797200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
43	chr11:33797000-33797200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:33797000-33797200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr11:33797000-33797200	Active TSS	Adipose Nuclei	Adipose
46	chr11:33797000-33797200	Flanking Active TSS	Brain Germinal Matrix	brain
47	chr11:33797000-33797200	Enhancers	Brain Hippocampus Middle	brain
48	chr11:33797000-33797200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr11:33797000-33797200	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr11:33797000-33797200	Bivalent Enhancer	Fetal Lung	lung

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