Variant report

Variant	rs12819535
Chromosome Location	chr12:30168834-30168835
allele	C/T
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:36)

rs_ID	r²[population]
rs10506052	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11609988	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615813	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11615860	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580161	0.94[ASN][1000 genomes]
rs12809401	0.96[ASN][1000 genomes]
rs12809421	0.93[ASN][1000 genomes]
rs12809796	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12811068	0.94[ASN][1000 genomes]
rs12811504	0.94[ASN][1000 genomes]
rs12815024	0.94[ASN][1000 genomes]
rs12817452	0.94[ASN][1000 genomes]
rs12818351	0.94[ASN][1000 genomes]
rs12818606	0.94[ASN][1000 genomes]
rs12819312	0.94[ASN][1000 genomes]
rs12822379	0.94[ASN][1000 genomes]
rs12822894	0.94[ASN][1000 genomes]
rs12823054	0.87[ASN][1000 genomes]
rs12828870	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12829150	0.94[ASN][1000 genomes]
rs12829697	0.94[ASN][1000 genomes]
rs12830126	0.94[ASN][1000 genomes]
rs12831115	0.99[ASN][1000 genomes]
rs12831163	0.94[ASN][1000 genomes]
rs12833660	0.96[ASN][1000 genomes]
rs16935260	0.99[ASN][1000 genomes]
rs1909145	0.94[ASN][1000 genomes]
rs1995149	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1995150	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34442210	0.99[ASN][1000 genomes]
rs35805515	0.99[ASN][1000 genomes]
rs4930871	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4930872	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4931243	0.82[AMR][1000 genomes]
rs7314898	0.94[ASN][1000 genomes]
rs7315007	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv2758302	chr12:30023167-30175232	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	esv2759889	chr12:30023167-30175232	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv948495	chr12:30090771-30344772	ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv826295	chr12:30130336-30207775	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1042081	chr12:30147993-30344670	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv541436	chr12:30147993-30344670	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30162200-30175400	Weak transcription	Aorta	Aorta
2	chr12:30164600-30169600	Enhancers	Fetal Brain Male	brain
3	chr12:30166200-30169000	Enhancers	Fetal Brain Female	brain
4	chr12:30166800-30171600	Weak transcription	Fetal Muscle Leg	muscle
5	chr12:30167400-30169200	Enhancers	Fetal Lung	lung
6	chr12:30168400-30169200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:30168600-30169000	Enhancers	Pancreas	Pancrea
8	chr12:30168800-30169000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:30168800-30169000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:30168800-30169200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:30168800-30169200	Enhancers	Fetal Kidney	kidney
12	chr12:30168800-30170000	Enhancers	Esophagus	oesophagus
13	chr12:30168800-30170000	Enhancers	Gastric	stomach
14	chr12:30168800-30172400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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