Variant report

Variant	rs12148044
Chromosome Location	chr14:69214219-69214220
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:69212433..69215414-chr14:69260940..69263889,2	MCF-7	breast:
2	chr14:69213485..69215775-chr14:69249988..69251772,2	K562	blood:
3	chr14:69210895..69217826-chr14:69255953..69264501,15	K562	blood:
4	chr14:69196700..69198365-chr14:69213161..69215430,2	K562	blood:
5	chr14:69212479..69217981-chr14:69255953..69262357,9	K562	blood:
6	chr14:69206368..69210602-chr14:69212379..69216516,4	K562	blood:
7	chr14:69206574..69210602-chr14:69211879..69218026,8	K562	blood:
8	chr14:69183888..69188009-chr14:69213725..69217312,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1051533	0.91[MEX][hapmap]
rs11851414	0.91[MEX][hapmap]
rs12147199	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17757282	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs194763	0.84[GIH][hapmap]
rs55814645	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56020080	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56082161	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56095181	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56119720	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56232028	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs58638884	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573856	1.00[CHD][hapmap]
rs72731526	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731527	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731529	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72731531	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731532	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72731534	0.91[EUR][1000 genomes]
rs72731535	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731537	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731538	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731539	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731544	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731547	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731549	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72731550	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72731551	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs735292	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8013475	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12148044	KIAA0247	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69201200-69222600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:69202800-69224600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr14:69204200-69219200	Weak transcription	Adipose Nuclei	Adipose
4	chr14:69205600-69216200	Weak transcription	Lung	lung
5	chr14:69212600-69215400	Weak transcription	Right Ventricle	heart
6	chr14:69212600-69229200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:69213800-69214400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:69213800-69214400	Enhancers	Rectal Smooth Muscle	rectum
9	chr14:69213800-69214400	Enhancers	Right Atrium	heart
10	chr14:69213800-69214600	Enhancers	Fetal Muscle Trunk	muscle
11	chr14:69213800-69214800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:69213800-69214800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:69213800-69215600	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:69213800-69216600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:69213800-69216800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr14:69213800-69217000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:69213800-69217000	Enhancers	Fetal Muscle Leg	muscle
18	chr14:69213800-69217000	Enhancers	Placenta	Placenta
19	chr14:69213800-69217200	Enhancers	Esophagus	oesophagus
20	chr14:69213800-69217200	Enhancers	Fetal Heart	heart
21	chr14:69213800-69217400	Enhancers	HepG2	liver
22	chr14:69213800-69217400	Enhancers	K562	blood
23	chr14:69213800-69217800	Enhancers	Colon Smooth Muscle	Colon
24	chr14:69214000-69214400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr14:69214000-69214400	Enhancers	Fetal Kidney	kidney
26	chr14:69214000-69214600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:69214000-69214800	Enhancers	Fetal Lung	lung
28	chr14:69214000-69215200	Weak transcription	Pancreas	Pancrea
29	chr14:69214000-69215600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr14:69214200-69214400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:69214200-69214400	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr14:69214200-69214400	Enhancers	Spleen	Spleen

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