Variant report

Variant	rs34384075
Chromosome Location	chr12:41422134-41422135
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11179721	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11833511	0.87[ASN][1000 genomes]
rs12318791	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12321711	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12809592	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12811306	0.82[AMR][1000 genomes]
rs12812222	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12812376	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12813644	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12816087	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12821567	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12825145	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12825902	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12828389	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12829787	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12833053	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34016577	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34128411	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34180877	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34269753	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34482675	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34554849	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34622861	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34823642	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35068475	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35135815	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35143604	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35168538	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35328876	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35414877	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35450098	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35462205	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35636053	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35665037	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35716153	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs35742712	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35862989	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs55639255	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71449790	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71449791	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71449793	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71449794	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71449796	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71449797	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71449802	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71451503	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71451512	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv832382	chr12:41359550-41489681	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv427910	chr12:41374913-41650593	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv428587	chr12:41375635-41546845	Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1051524	chr12:41409977-41643387	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41405200-41429800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr12:41405600-41423000	Weak transcription	Ovary	ovary
3	chr12:41407000-41425200	Weak transcription	Brain Angular Gyrus	brain
4	chr12:41408200-41426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr12:41408200-41449800	Weak transcription	Brain Anterior Caudate	brain
6	chr12:41408800-41428000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:41409000-41435000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:41410000-41424800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:41417000-41427400	Weak transcription	Fetal Lung	lung
10	chr12:41417800-41423000	Weak transcription	Aorta	Aorta
11	chr12:41418000-41424600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr12:41418600-41422800	Weak transcription	Brain Substantia Nigra	brain
13	chr12:41419600-41422200	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:41421000-41423600	Weak transcription	Fetal Kidney	kidney
15	chr12:41421800-41426200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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