Variant report

Variant	rs12714264
Chromosome Location	chr2:21265518-21265519
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:21265474..21266321-chr2:21340848..21341823,6	K562	blood:
2	chr2:21265408..21266174-chr2:21276468..21277419,3	K562	blood:
3	chr2:21265489..21266445-chr2:23574136..23574916,2	K562	blood:
4	chr2:21265514..21266581-chr2:21387973..21389226,4	MCF-7	breast:
5	chr2:21247697..21249209-chr2:21263867..21265752,2	MCF-7	breast:
6	chr2:21265241..21266102-chr2:21539688..21540633,3	MCF-7	breast:
7	chr2:21265434..21266455-chr2:21539160..21540754,7	K562	blood:
8	chr2:21265338..21266452-chr2:21340549..21342036,14	MCF-7	breast:
9	chr2:21265425..21266383-chr2:21340846..21341842,5	MCF-7	breast:
10	chr2:21265398..21266438-chr2:21388039..21388919,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231204	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13011615	0.81[EUR][1000 genomes]
rs1713222	0.88[CEU][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1800481	0.83[EUR][1000 genomes]
rs34722314	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34872576	0.84[AMR][1000 genomes]
rs34916112	0.84[AMR][1000 genomes]
rs35913552	0.82[EUR][1000 genomes]
rs481069	0.82[EUR][1000 genomes]
rs531819	0.94[CEU][hapmap];0.85[EUR][1000 genomes]
rs585967	0.94[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67332771	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][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	nsv873728	chr2:21250914-21460786	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12714264	FKBP1B	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21256600-21266400	Transcr. at gene 5' and 3'	HepG2	liver
2	chr2:21260400-21266000	Weak transcription	Lung	lung
3	chr2:21261600-21266000	Weak transcription	Left Ventricle	heart
4	chr2:21261600-21266000	Weak transcription	Right Ventricle	heart
5	chr2:21261800-21265800	Transcr. at gene 5' and 3'	Liver	Liver
6	chr2:21262000-21266000	Weak transcription	Pancreas	Pancrea
7	chr2:21262200-21265600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr2:21262200-21265800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:21262200-21266000	Weak transcription	Gastric	stomach
10	chr2:21262400-21266000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:21263400-21266200	Active TSS	Right Atrium	heart
12	chr2:21263600-21267200	Active TSS	Duodenum Mucosa	Duodenum
13	chr2:21264200-21266000	Weak transcription	Aorta	Aorta
14	chr2:21264800-21265800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:21264800-21266000	Enhancers	Adipose Nuclei	Adipose
16	chr2:21265000-21266000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:21265200-21265600	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:21265200-21268400	Enhancers	Spleen	Spleen
19	chr2:21265400-21266000	Active TSS	Fetal Intestine Small	intestine
20	chr2:21265400-21266000	Weak transcription	Ovary	ovary
21	chr2:21265400-21266200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:21265400-21267200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:21265400-21267200	Active TSS	Fetal Intestine Large	intestine

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