Variant report

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10506248	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094494	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17094697	1.00[ASN][1000 genomes]
rs17121314	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1948461	1.00[ASN][1000 genomes]
rs2068103	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55923007	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55956897	1.00[ASN][1000 genomes]
rs57673436	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73094339	1.00[ASN][1000 genomes]
rs73094354	1.00[ASN][1000 genomes]
rs73096306	1.00[ASN][1000 genomes]
rs73096326	1.00[ASN][1000 genomes]
rs73096328	1.00[ASN][1000 genomes]
rs73096336	1.00[ASN][1000 genomes]
rs7310784	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7310993	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74085178	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7955106	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7958792	1.00[ASN][1000 genomes]
rs7974460	1.00[EUR][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	nsv1049818	chr12:44486312-45133783	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1038498	chr12:44679455-44816572	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv826356	chr12:44725069-44783443	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
2	chr12:44762000-44791200	Weak transcription	Fetal Intestine Large	intestine
3	chr12:44770000-44784400	Weak transcription	Pancreas	Pancrea
4	chr12:44770000-44785200	Weak transcription	Adipose Nuclei	Adipose
5	chr12:44771200-44781800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr12:44772000-44782200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr12:44772400-44787000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:44775400-44783200	Weak transcription	Fetal Brain Female	brain
9	chr12:44775600-44783800	Weak transcription	Fetal Heart	heart
10	chr12:44779800-44780200	Enhancers	Placenta Amnion	Placenta Amnion

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