Variant report

Variant	rs12638523
Chromosome Location	chr3:21749497-21749498
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12633967	0.86[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap]
rs13081227	1.00[CEU][hapmap];0.89[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1320290	0.86[CEU][hapmap]
rs1320291	0.85[CEU][hapmap]
rs2336040	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34736466	0.81[AMR][1000 genomes]
rs3821396	0.86[CEU][hapmap]
rs4380425	1.00[YRI][hapmap]
rs62237452	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6762678	0.86[CEU][hapmap]
rs6764199	1.00[CEU][hapmap];0.90[JPT][hapmap];0.86[EUR][1000 genomes]
rs6775498	1.00[CEU][hapmap];0.89[JPT][hapmap];0.93[EUR][1000 genomes]
rs9310654	0.85[JPT][hapmap];0.87[EUR][1000 genomes]
rs9310655	1.00[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9813051	0.92[EUR][1000 genomes]
rs9833071	0.83[EUR][1000 genomes]
rs9833350	0.83[EUR][1000 genomes]
rs9859099	1.00[CEU][hapmap];0.89[JPT][hapmap]
rs9862240	1.00[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs9869922	0.92[EUR][1000 genomes]
rs9871400	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534005	chr3:21387588-22003293	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1010460	chr3:21516810-21839871	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv834631	chr3:21612283-21763887	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv1007048	chr3:21666807-21865229	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv536516	chr3:21666807-21865229	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21732800-21757600	Weak transcription	Fetal Muscle Leg	muscle
2	chr3:21737800-21753600	Weak transcription	Aorta	Aorta
3	chr3:21747600-21749800	Weak transcription	Psoas Muscle	Psoas
4	chr3:21747800-21750800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:21748000-21758400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr3:21748600-21757800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr3:21749400-21749600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr3:21749400-21749600	Enhancers	Left Ventricle	heart

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