Variant report

Variant	rs4423249
Chromosome Location	chr12:40268730-40268731
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10747932	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10784118	1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10784208	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10784223	0.82[ASN][1000 genomes]
rs10784228	0.82[ASN][1000 genomes]
rs10784234	0.86[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10877533	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11174104	0.81[ASN][1000 genomes]
rs4293188	0.84[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4318032	1.00[JPT][hapmap]
rs4370998	0.84[ASN][1000 genomes]
rs4382970	0.84[ASN][1000 genomes]
rs4388962	1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[ASN][1000 genomes]
rs4429129	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4433640	0.85[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4473001	1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4473002	0.81[ASN][1000 genomes]
rs4531537	0.84[CEU][hapmap];0.82[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4598727	0.81[EUR][1000 genomes]
rs4604958	0.81[EUR][1000 genomes]
rs4638370	0.82[EUR][1000 genomes]
rs4768188	0.82[EUR][1000 genomes]
rs4768189	0.81[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6581365	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6581403	1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6581405	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7133478	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7134335	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135701	0.85[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7295029	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7295344	1.00[JPT][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7299208	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7304797	0.81[EUR][1000 genomes]
rs7306234	0.81[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7358574	0.82[EUR][1000 genomes]
rs7958983	0.82[EUR][1000 genomes]
rs7959259	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7960098	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7961625	0.86[CEU][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7963645	0.82[EUR][1000 genomes]
rs7966294	0.82[EUR][1000 genomes]
rs7967956	0.82[ASN][1000 genomes]
rs7968509	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899025	chr12:40191778-40321846	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv1049214	chr12:40197549-40326495	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1046428	chr12:40226283-40439843	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv541481	chr12:40226283-40439843	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40209200-40268800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr12:40219800-40272600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:40226400-40275000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:40235200-40269200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:40247000-40272000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:40247200-40272800	Weak transcription	Left Ventricle	heart
7	chr12:40262600-40280000	Weak transcription	Small Intestine	intestine
8	chr12:40262800-40272600	Weak transcription	Pancreas	Pancrea
9	chr12:40268400-40270000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:40268600-40270000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr12:40268600-40270200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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