Variant report

Variant	rs4519134
Chromosome Location	chr12:48808927-48808928
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11168550	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11168584	0.81[AMR][1000 genomes]
rs11608260	0.81[AMR][1000 genomes]
rs11612896	0.83[CHD][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.81[AMR][1000 genomes]
rs11829869	0.81[CHD][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.81[AMR][1000 genomes]
rs11830262	0.81[AMR][1000 genomes]
rs11832311	0.81[CHD][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.81[AMR][1000 genomes]
rs11833650	0.81[AMR][1000 genomes]
rs11834790	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11834979	0.81[AMR][1000 genomes]
rs11836243	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836257	0.81[AMR][1000 genomes]
rs11837374	0.81[AMR][1000 genomes]
rs12424940	0.81[AMR][1000 genomes]
rs12425518	0.84[GIH][hapmap];0.80[MEX][hapmap]
rs17123011	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17123105	0.81[AMR][1000 genomes]
rs17123106	0.81[AMR][1000 genomes]
rs17123108	0.81[AMR][1000 genomes]
rs2068293	0.81[AMR][1000 genomes]
rs34400124	0.81[AMR][1000 genomes]
rs4146339	0.84[AMR][1000 genomes]
rs4265629	0.81[AMR][1000 genomes]
rs4331150	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4332560	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4344535	0.81[AMR][1000 genomes]
rs4500527	0.81[AMR][1000 genomes]
rs4592463	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4620769	0.81[CHD][hapmap];0.89[GIH][hapmap];0.96[MEX][hapmap];0.81[AMR][1000 genomes]
rs4760702	1.00[CEU][hapmap]
rs4760703	0.80[MEX][hapmap]
rs56796388	0.81[AMR][1000 genomes]
rs59872392	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60346212	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72644850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72644851	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72644852	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72644853	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72644858	0.81[AMR][1000 genomes]
rs72644859	0.81[AMR][1000 genomes]
rs72644862	0.81[AMR][1000 genomes]
rs72644863	0.81[AMR][1000 genomes]
rs72644864	0.81[AMR][1000 genomes]
rs72644865	0.83[AMR][1000 genomes]
rs7966826	0.81[CHD][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap]
rs7973559	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[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	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv427911	chr12:48670336-48979396	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv832402	chr12:48686761-48851020	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48807000-48809000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:48807000-48809000	Enhancers	Fetal Lung	lung
3	chr12:48807800-48809200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:48808200-48813000	Weak transcription	K562	blood
5	chr12:48808200-48813400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr12:48808400-48813200	Weak transcription	Adipose Nuclei	Adipose
7	chr12:48808600-48813800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:48808800-48813800	Weak transcription	Colon Smooth Muscle	Colon
9	chr12:48808800-48816000	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links