Variant report

Variant	rs11048311
Chromosome Location	chr12:26022138-26022139
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10431264	1.00[CHB][hapmap]
rs10505985	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505986	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842627	1.00[ASN][1000 genomes]
rs10842630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842633	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs10842634	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10842635	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842636	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10842637	1.00[ASN][1000 genomes]
rs11048289	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11048300	1.00[ASN][1000 genomes]
rs11048304	1.00[ASN][1000 genomes]
rs11048305	1.00[ASN][1000 genomes]
rs11048309	1.00[ASN][1000 genomes]
rs11048312	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048315	1.00[ASN][1000 genomes]
rs11048317	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048319	1.00[ASN][1000 genomes]
rs11048323	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048325	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048326	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048328	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048329	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048330	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048331	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11048333	0.84[YRI][hapmap]
rs12368327	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369495	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816906	0.84[YRI][hapmap]
rs12817333	0.83[YRI][hapmap]
rs1511008	1.00[ASN][1000 genomes]
rs16929496	0.94[EUR][1000 genomes]
rs56245229	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58294161	1.00[ASN][1000 genomes]
rs7134325	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73086135	1.00[ASN][1000 genomes]
rs73086136	1.00[ASN][1000 genomes]
rs73086141	1.00[ASN][1000 genomes]
rs73088111	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv1035319	chr12:26020667-26097148	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26020200-26024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:26021000-26024000	Weak transcription	Placenta	Placenta
3	chr12:26021800-26022200	Enhancers	HUES6 Cell Line	embryonic stem cell

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