Variant report

Variant	rs1320292
Chromosome Location	chr3:21701712-21701713
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:21696094..21698231-chr3:21699619..21701912,2	K562	blood:
2	chr3:21700043..21701909-chr3:21703783..21705920,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1021351	0.86[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1032314	0.86[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs12491351	0.93[MEX][hapmap];0.87[AMR][1000 genomes]
rs1387819	0.84[ASN][1000 genomes]
rs1387823	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1490157	0.82[MEX][hapmap]
rs2335812	0.91[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3860585	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3936575	0.82[CHB][hapmap];0.95[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.86[MEX][hapmap];0.93[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4241507	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4298061	0.81[CEU][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap]
rs6550616	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6793079	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7610303	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7619318	0.82[CHD][hapmap];0.88[GIH][hapmap];0.90[JPT][hapmap];0.88[TSI][hapmap]
rs7630501	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7649561	0.82[GIH][hapmap];0.81[JPT][hapmap];0.84[TSI][hapmap]
rs9828403	0.91[CEU][hapmap];0.86[CHB][hapmap];0.88[GIH][hapmap];0.87[MEX][hapmap];0.84[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs986043	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9864337	0.81[CEU][hapmap];0.82[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.87[TSI][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs986503	0.90[CEU][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9881055	0.86[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv589896	chr3:21692393-21712269	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1320292	RPL15	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:21683800-21706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:21685600-21707200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:21687200-21701800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:21687200-21706200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:21687200-21709600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:21687400-21706800	Weak transcription	Fetal Lung	lung
7	chr3:21688000-21707000	Weak transcription	Fetal Muscle Leg	muscle
8	chr3:21695000-21703600	Weak transcription	K562	blood
9	chr3:21696600-21713400	Weak transcription	Fetal Heart	heart
10	chr3:21696800-21713200	Weak transcription	NHDF-Ad	bronchial
11	chr3:21697000-21704400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:21697200-21706200	Weak transcription	Aorta	Aorta
13	chr3:21699000-21707000	Weak transcription	Fetal Stomach	stomach
14	chr3:21699800-21705200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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