Variant report

Variant	rs1380179
Chromosome Location	chr17:15196137-15196138
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1079974	0.90[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1121593	0.90[CEU][hapmap]
rs12449862	0.81[CEU][hapmap]
rs1380181	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13961	0.95[CHD][hapmap];0.80[JPT][hapmap]
rs179521	0.95[CEU][hapmap]
rs1870428	0.90[CEU][hapmap];0.84[GIH][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1870430	0.90[CEU][hapmap]
rs2024157	1.00[ASN][1000 genomes]
rs230966	0.95[CHD][hapmap];0.80[JPT][hapmap]
rs2323653	0.90[CEU][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4792586	0.98[ASN][1000 genomes]
rs6502441	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7217780	0.86[ASN][1000 genomes]
rs7502492	0.89[ASW][hapmap];0.84[GIH][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes]
rs8073642	0.87[ASN][1000 genomes]
rs8073989	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs981250	0.83[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	nsv1066329	chr17:14983674-15294071	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
2	nsv543212	chr17:14983674-15294071	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
3	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv427990	chr17:15154329-15434020	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1380179	CDRT1	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15191600-15205200	Weak transcription	Fetal Lung	lung
2	chr17:15193400-15201400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:15195000-15196600	Enhancers	Left Ventricle	heart
4	chr17:15195200-15196400	Flanking Active TSS	Fetal Heart	heart
5	chr17:15195200-15196600	Enhancers	Right Atrium	heart
6	chr17:15196000-15201200	Weak transcription	Osteobl	bone
7	chr17:15196000-15201400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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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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