Variant report

Variant	rs12338757
Chromosome Location	chr9:13932998-13932999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10117560	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10119201	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10121122	0.82[AFR][1000 genomes]
rs10122002	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10123937	0.82[AFR][1000 genomes]
rs10810059	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12337618	0.82[JPT][hapmap]
rs13285663	0.82[EUR][1000 genomes]
rs16931157	0.82[AMR][1000 genomes]
rs2382427	0.88[ASN][1000 genomes]
rs2382428	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4130987	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4478664	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4636302	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7031231	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7857701	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7875036	0.81[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs957691	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022001	chr9:13717736-13983738	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv613635	chr9:13893246-13961462	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1015319	chr9:13931836-13970419	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:13924200-13938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:13931600-13933000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:13931600-13935800	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr9:13932000-13933600	Enhancers	Adipose Nuclei	Adipose
5	chr9:13932400-13933600	Enhancers	Fetal Muscle Leg	muscle
6	chr9:13932600-13933000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:13932600-13933000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
8	chr9:13932600-13933600	Enhancers	Fetal Heart	heart
9	chr9:13932600-13933600	Enhancers	Left Ventricle	heart
10	chr9:13932600-13933600	Enhancers	Right Atrium	heart
11	chr9:13932600-13933600	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:13932800-13933000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:13932800-13933200	Enhancers	Fetal Lung	lung
14	chr9:13932800-13933600	Enhancers	Psoas Muscle	Psoas

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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