Variant report

Variant	rs17094408
Chromosome Location	chr12:44701284-44701285
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:41)

rs_ID	r²[population]
rs10506243	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10506244	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10506245	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11182470	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11182477	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs12300292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1527315	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17094382	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094386	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094396	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17094401	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094405	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094412	1.00[CEU][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094421	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094423	1.00[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17094437	1.00[CEU][hapmap];0.89[YRI][hapmap];0.84[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	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17094509	0.92[EUR][1000 genomes]
rs17094532	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17094560	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes]
rs17094577	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1716605	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1726889	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1948424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2080876	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3858725	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4307772	1.00[CEU][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4544066	0.92[EUR][1000 genomes]
rs4573751	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7296406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73276261	0.84[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	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7953992	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7966220	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7975491	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7979252	1.00[MEX][hapmap]
rs840774	1.00[CEU][hapmap];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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44688800-44702000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:44690800-44701400	Weak transcription	Left Ventricle	heart
3	chr12:44691400-44701400	Weak transcription	Psoas Muscle	Psoas
4	chr12:44694600-44706000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr12:44698400-44702800	Weak transcription	Gastric	stomach
6	chr12:44699000-44702200	Weak transcription	Esophagus	oesophagus
7	chr12:44699000-44702400	Weak transcription	Ovary	ovary
8	chr12:44699000-44712600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:44699000-44713800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
11	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
12	chr12:44700000-44702600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:44700000-44705800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr12:44700800-44701800	Enhancers	Fetal Heart	heart
15	chr12:44701000-44704200	Weak transcription	Fetal Brain Male	brain

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