Variant report

Variant	rs1948424
Chromosome Location	chr12:44702626-44702627
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10506243	1.00[EUR][1000 genomes]
rs10506244	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506245	0.92[EUR][1000 genomes]
rs11182470	0.92[EUR][1000 genomes]
rs11182477	0.92[EUR][1000 genomes]
rs12300292	1.00[EUR][1000 genomes]
rs1527315	0.92[EUR][1000 genomes]
rs17094382	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094386	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094396	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094401	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094408	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094412	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094421	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094423	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094437	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094458	1.00[EUR][1000 genomes]
rs17094465	0.92[EUR][1000 genomes]
rs17094473	0.92[EUR][1000 genomes]
rs17094505	0.92[EUR][1000 genomes]
rs17094509	0.92[EUR][1000 genomes]
rs17094532	0.92[EUR][1000 genomes]
rs17094560	0.92[EUR][1000 genomes]
rs1716605	1.00[EUR][1000 genomes]
rs1726889	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2080876	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3858725	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4544066	0.92[EUR][1000 genomes]
rs4573751	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296406	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276261	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74084494	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953537	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953992	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975491	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs840774	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44694600-44706000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:44698400-44702800	Weak transcription	Gastric	stomach
3	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
6	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
7	chr12:44700000-44705800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:44701000-44704200	Weak transcription	Fetal Brain Male	brain
9	chr12:44702600-44703200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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