Variant report

Variant	rs12288253
Chromosome Location	chr11:47471802-47471803
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:47471789-47471839	HRE	kidney:	n/a
2	chr11:47471789-47471839	ProgFib	skin:	n/a
3	chr11:47471789-47471839	NHBE	bronchial:	n/a
4	chr11:47471789-47471839	ovcar-3	ovarian:	n/a
5	chr11:47471789-47471839	RPTEC	kidney:	n/a
6	chr11:47471789-47471839	AG10803	skin:	n/a
7	chr11:47471789-47471839	SK-N-MC	brain:	n/a
8	chr11:47471789-47471839	LNCaP	prostate:	n/a
9	chr11:47471789-47471839	IMR90	lung:	fetal
10	chr11:47471789-47471839	AG04450	lung:	fetal
11	chr11:47471789-47471839	SKMC	muscle:	n/a
12	chr11:47471789-47471839	AG09319	gingival:	n/a
13	chr11:47471789-47471839	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:47471789-47471839	MCF-7	breast:	n/a
15	chr11:47471789-47471839	HRPEpiC	eye:	n/a
16	chr11:47471789-47471839	GM12891	blood:	n/a
17	chr11:47471789-47471839	SK-N-SH_RA	brain:	n/a
18	chr11:47471789-47471839	Jurkat	blood:	n/a
19	chr11:47471789-47471839	GM12878	blood:	n/a
20	chr11:47471789-47471839	CMK	blood:	n/a
21	chr11:47471789-47471839	GM12892	blood:	n/a
22	chr11:47471789-47471839	Caco-2	colon:	n/a
23	chr11:47471789-47471839	HEEpiC	esophagus:	n/a
24	chr11:47471789-47471839	HAEpiC	amniotic membrane:	n/a
25	chr11:47471789-47471839	AG09309	skin:	n/a
26	chr11:47471789-47471839	HEK293	kidney:	embryo
27	chr11:47471789-47471839	SK-N-SH	brain:	n/a
28	chr11:47471789-47471839	GM19239	blood:	n/a
29	chr11:47471789-47471839	HCPEpiC	choroid plexus:	n/a
30	chr11:47471789-47471839	BJ	skin:	n/a
31	chr11:47471789-47471839	HL-60	blood:	n/a
32	chr11:47471789-47471839	SAEC	small airway:	n/a
33	chr11:47471789-47471839	MCF10A-Er-Src	breast:	n/a
34	chr11:47471789-47471839	HepG2	liver:	n/a
35	chr11:47471789-47471839	K562	blood:	n/a
36	chr11:47471789-47471839	Hepatocyte	liver:	n/a
37	chr11:47471789-47471839	AoSMC	blood vessel:	n/a
38	chr11:47471789-47471839	PFSK-1	brain:	n/a
39	chr11:47471789-47471839	HIPEpiC	eye:	n/a
40	chr11:47471789-47471839	HCF	heart:	n/a
41	chr11:47471789-47471839	Hela-S3	cervix:	n/a
42	chr11:47471789-47471839	NH-A	brain:	n/a
43	chr11:47471789-47471839	A549	lung:	n/a
44	chr11:47471789-47471839	HNPCEpiC	eye:	n/a
45	chr11:47471789-47471839	ECC-1	luminal epithelium:	n/a
46	chr11:47471789-47471839	NHDF-neo	bronchial:	n/a
47	chr11:47471789-47471839	HCT-116	colon:	n/a
48	chr11:47471789-47471839	HUVEC	blood vessel:	n/a
49	chr11:47471789-47471839	BE2_C	brain:	n/a
50	chr11:47471789-47471839	HMEC	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47393904..47396157-chr11:47470768..47473651,2	K562	blood:

No data

Variant related genes	Relation type
RAPSN	CpG island

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11039250	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039259	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039261	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039298	1.00[AMR][1000 genomes]
rs11039349	1.00[AMR][1000 genomes]
rs12271179	1.00[AMR][1000 genomes]
rs12272214	1.00[AMR][1000 genomes]
rs12273429	1.00[AFR][1000 genomes]
rs12275286	1.00[AMR][1000 genomes]
rs12283198	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286933	1.00[AMR][1000 genomes]
rs12289434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13377591	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2233357	1.00[YRI][hapmap]
rs61978569	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47448600-47488400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:47453400-47480000	Weak transcription	Thymus	Thymus
3	chr11:47457400-47480200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:47457400-47480800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:47457400-47488400	Weak transcription	Gastric	stomach
6	chr11:47459800-47480600	Weak transcription	Fetal Intestine Small	intestine
7	chr11:47459800-47480800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr11:47460000-47475600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr11:47461800-47480800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr11:47464000-47481000	Weak transcription	NHEK	skin
11	chr11:47465000-47480800	Weak transcription	Adipose Nuclei	Adipose
12	chr11:47465200-47475600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr11:47465800-47480800	Weak transcription	Primary T cells from cord blood	blood
14	chr11:47466000-47475600	Weak transcription	Fetal Thymus	thymus
15	chr11:47467800-47475600	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:47468800-47482200	Weak transcription	HUVEC	blood vessel
17	chr11:47470400-47472000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr11:47470400-47473800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:47470600-47474400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:47471000-47480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:47471000-47480800	Weak transcription	Left Ventricle	heart
22	chr11:47471000-47480800	Weak transcription	Pancreas	Pancrea
23	chr11:47471000-47486200	Weak transcription	Right Ventricle	heart
24	chr11:47471200-47472000	Enhancers	Liver	Liver
25	chr11:47471200-47482200	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr11:47471200-47488400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:47471400-47473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:47471400-47475600	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:47471400-47479600	Weak transcription	Placenta	Placenta
30	chr11:47471400-47480600	Weak transcription	A549	lung
31	chr11:47471400-47480800	Weak transcription	Lung	lung
32	chr11:47471400-47489200	Weak transcription	HepG2	liver
33	chr11:47471600-47472000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:47471600-47475600	Weak transcription	Fetal Muscle Leg	muscle
35	chr11:47471600-47480600	Weak transcription	HSMM	muscle
36	chr11:47471600-47480600	Weak transcription	HSMMtube	muscle
37	chr11:47471600-47480800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr11:47471600-47486000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr11:47471800-47475800	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr11:47471800-47476400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr11:47471800-47485600	Weak transcription	Spleen	Spleen

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