Variant report

Variant	rs12731969
Chromosome Location	chr1:114118742-114118743
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10489936	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1080307	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12723023	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12730675	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12731010	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12734625	0.84[AMR][1000 genomes]
rs12739970	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12746609	0.86[AMR][1000 genomes]
rs12752932	0.82[AMR][1000 genomes]
rs12753075	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12753351	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12758546	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs13374352	0.84[AMR][1000 genomes]
rs17274550	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17274620	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17274634	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17359302	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17508163	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17508814	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1885454	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2359173	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2359174	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs34258372	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34799402	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35320278	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35383900	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35836713	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3747998	0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3748003	0.89[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3761931	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3789595	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs4581284	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55855422	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56257513	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61817579	0.86[AMR][1000 genomes]
rs61817586	0.84[AMR][1000 genomes]
rs61819423	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61819424	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61820162	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6674848	0.84[AMR][1000 genomes]
rs66782936	0.95[ASN][1000 genomes]
rs9803891	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[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	nsv437013	chr1:114065955-114129092	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv947128	chr1:114088844-114122533	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114094800-114138400	Weak transcription	NHDF-Ad	bronchial
2	chr1:114100200-114127600	Weak transcription	Ovary	ovary
3	chr1:114100600-114118800	Weak transcription	Pancreas	Pancrea
4	chr1:114100600-114140200	Weak transcription	Left Ventricle	heart
5	chr1:114100600-114173400	Weak transcription	Gastric	stomach
6	chr1:114110800-114139600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:114113000-114138400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:114115400-114132000	Weak transcription	Primary T cells from cord blood	blood
9	chr1:114116800-114128000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:114116800-114138200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr1:114117600-114138400	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:114118200-114118800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:114118400-114118800	ZNF genes & repeats	Fetal Intestine Large	intestine
14	chr1:114118400-114119000	ZNF genes & repeats	Fetal Stomach	stomach
15	chr1:114118400-114119400	Enhancers	Liver	Liver
16	chr1:114118600-114119000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr1:114118600-114119200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:114118600-114119200	Enhancers	Esophagus	oesophagus
19	chr1:114118600-114119200	ZNF genes & repeats	Lung	lung
20	chr1:114118600-114119200	Genic enhancers	Stomach Mucosa	stomach
21	chr1:114118600-114124000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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