Variant report

Variant	rs1716605
Chromosome Location	chr12:44723185-44723186
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10082784	0.84[YRI][hapmap]
rs10506243	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10506244	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10506245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506247	0.89[YRI][hapmap]
rs1098497	1.00[ASN][1000 genomes]
rs11182470	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11182477	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs12300292	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs1527315	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.93[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1622682	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1625442	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1643432	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1643433	1.00[ASN][1000 genomes]
rs1643434	1.00[ASN][1000 genomes]
rs1644007	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1644009	0.83[ASN][1000 genomes]
rs1644010	0.83[ASN][1000 genomes]
rs1644011	0.83[ASN][1000 genomes]
rs1644014	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17094382	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17094386	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17094396	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs17094401	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17094405	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17094408	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17094412	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17094421	1.00[EUR][1000 genomes]
rs17094423	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs17094437	1.00[CEU][hapmap];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];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];0.92[EUR][1000 genomes]
rs17094577	1.00[CEU][hapmap]
rs1716606	1.00[ASN][1000 genomes]
rs1716609	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1726874	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1726879	1.00[ASN][1000 genomes]
rs1726884	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1726887	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1726888	1.00[ASN][1000 genomes]
rs1726889	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1726890	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1726900	1.00[ASN][1000 genomes]
rs1798020	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1798023	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1798025	0.83[ASN][1000 genomes]
rs1798026	0.83[ASN][1000 genomes]
rs1798027	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs1798032	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1948424	1.00[EUR][1000 genomes]
rs2080876	1.00[EUR][1000 genomes]
rs2897810	0.93[YRI][hapmap]
rs3858725	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4307772	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs4544066	0.92[EUR][1000 genomes]
rs4573751	1.00[EUR][1000 genomes]
rs58802461	1.00[ASN][1000 genomes]
rs60441308	1.00[ASN][1000 genomes]
rs7313324	0.89[YRI][hapmap]
rs7314412	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73274199	0.83[ASN][1000 genomes]
rs73276236	1.00[ASN][1000 genomes]
rs73276240	1.00[ASN][1000 genomes]
rs73276261	1.00[EUR][1000 genomes]
rs73276275	1.00[ASN][1000 genomes]
rs74084494	1.00[EUR][1000 genomes]
rs7953537	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7953992	1.00[EUR][1000 genomes]
rs7954216	1.00[JPT][hapmap]
rs7958975	1.00[ASN][1000 genomes]
rs7966220	1.00[EUR][1000 genomes]
rs7969466	1.00[JPT][hapmap]
rs7975491	0.92[EUR][1000 genomes]
rs840764	1.00[ASN][1000 genomes]
rs840766	1.00[ASN][1000 genomes]
rs840767	1.00[ASN][1000 genomes]
rs840768	1.00[ASN][1000 genomes]
rs840772	0.83[ASN][1000 genomes]
rs840773	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs840774	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs859016	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs863482	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9739776	0.93[YRI][hapmap]

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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44699000-44736000	Weak transcription	Pancreas	Pancrea
2	chr12:44699000-44782000	Weak transcription	Aorta	Aorta
3	chr12:44709200-44743200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44712400-44765800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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