Variant report

Variant	rs17094341
Chromosome Location	chr12:44640859-44640860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11609283	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11609568	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs11613444	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11830719	1.00[JPT][hapmap]
rs1492887	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1527316	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs1527317	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094057	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs17094063	1.00[JPT][hapmap]
rs17094102	1.00[JPT][hapmap]
rs17094110	1.00[JPT][hapmap]
rs17094127	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094138	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094142	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094168	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094173	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094228	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094238	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094242	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17094244	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094257	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094264	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094272	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094276	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094278	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094291	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094292	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094299	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094304	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094306	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094313	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17094328	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094330	1.00[CHB][hapmap];0.93[ASN][1000 genomes]
rs17094333	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094336	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17094338	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094351	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17094358	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17094374	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17121305	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2012087	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs28397962	0.93[ASN][1000 genomes]
rs55645887	0.93[ASN][1000 genomes]
rs55747421	0.93[ASN][1000 genomes]
rs55874183	0.93[ASN][1000 genomes]
rs55991202	0.93[ASN][1000 genomes]
rs58450697	0.93[ASN][1000 genomes]
rs59136483	0.93[ASN][1000 genomes]
rs59704299	0.93[ASN][1000 genomes]
rs59957474	0.93[ASN][1000 genomes]
rs60461380	0.93[ASN][1000 genomes]
rs61228557	0.93[ASN][1000 genomes]
rs7137787	1.00[JPT][hapmap]
rs7298835	1.00[JPT][hapmap]
rs7308476	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs73100817	0.93[ASN][1000 genomes]
rs73100841	0.93[ASN][1000 genomes]
rs73100848	0.86[ASN][1000 genomes]
rs73102910	0.93[ASN][1000 genomes]
rs73102925	0.93[ASN][1000 genomes]
rs73102927	0.93[ASN][1000 genomes]
rs73102932	0.93[ASN][1000 genomes]
rs73102937	0.93[ASN][1000 genomes]
rs73102938	0.93[ASN][1000 genomes]
rs7311714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7967957	1.00[JPT][hapmap]
rs9738149	1.00[JPT][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	nsv832393	chr12:44529406-44692414	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44612000-44655600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44634200-44641800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:44635800-44643400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:44640200-44641000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:44640200-44641000	Enhancers	Duodenum Smooth Muscle	Duodenum
6	chr12:44640200-44642200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr12:44640400-44641400	Enhancers	Pancreatic Islets	Pancreatic Islet
8	chr12:44640600-44641000	Enhancers	Fetal Stomach	stomach
9	chr12:44640600-44641200	Enhancers	Brain Germinal Matrix	brain
10	chr12:44640600-44641200	Enhancers	Fetal Brain Male	brain
11	chr12:44640800-44641800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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