Variant report

Variant	rs3750402
Chromosome Location	chr9:15972113-15972114
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1169469	0.92[ASN][1000 genomes]
rs1169471	0.92[ASN][1000 genomes]
rs1169472	0.92[ASN][1000 genomes]
rs1169475	1.00[ASN][1000 genomes]
rs1169476	1.00[ASN][1000 genomes]
rs1169477	1.00[ASN][1000 genomes]
rs1169481	1.00[ASN][1000 genomes]
rs1169482	0.85[ASN][1000 genomes]
rs1184568	0.92[ASN][1000 genomes]
rs1184913	1.00[ASN][1000 genomes]
rs1186048	1.00[ASN][1000 genomes]
rs1186387	1.00[ASN][1000 genomes]
rs1328285	1.00[ASN][1000 genomes]
rs1341733	0.85[ASN][1000 genomes]
rs16933738	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1773062	1.00[ASN][1000 genomes]
rs1891209	0.92[ASN][1000 genomes]
rs1935223	1.00[ASN][1000 genomes]
rs2094520	1.00[ASN][1000 genomes]
rs2182934	1.00[ASN][1000 genomes]
rs2182935	1.00[ASN][1000 genomes]
rs2769714	0.92[ASN][1000 genomes]
rs2769716	1.00[ASN][1000 genomes]
rs2794638	0.85[ASN][1000 genomes]
rs2987037	0.93[ASN][1000 genomes]
rs2987040	0.93[ASN][1000 genomes]
rs2987043	0.93[ASN][1000 genomes]
rs2987044	0.93[ASN][1000 genomes]
rs2987046	0.85[ASN][1000 genomes]
rs2987053	0.92[ASN][1000 genomes]
rs2987054	1.00[ASN][1000 genomes]
rs2987057	1.00[ASN][1000 genomes]
rs2987063	1.00[ASN][1000 genomes]
rs2987065	1.00[ASN][1000 genomes]
rs2987066	1.00[ASN][1000 genomes]
rs2987073	1.00[ASN][1000 genomes]
rs2987076	1.00[ASN][1000 genomes]
rs2987077	0.85[ASN][1000 genomes]
rs3008669	1.00[ASN][1000 genomes]
rs3008680	1.00[ASN][1000 genomes]
rs3008682	1.00[ASN][1000 genomes]
rs3008683	1.00[ASN][1000 genomes]
rs3008700	0.86[ASN][1000 genomes]
rs3008706	0.85[ASN][1000 genomes]
rs3008708	0.85[ASN][1000 genomes]
rs3008712	0.93[ASN][1000 genomes]
rs3008737	0.93[ASN][1000 genomes]
rs6474996	0.93[ASN][1000 genomes]
rs7469281	1.00[ASN][1000 genomes]
rs770203	1.00[ASN][1000 genomes]
rs770206	0.92[ASN][1000 genomes]
rs770210	0.92[ASN][1000 genomes]
rs770212	0.92[ASN][1000 genomes]
rs770214	0.92[ASN][1000 genomes]
rs770217	1.00[ASN][1000 genomes]
rs770218	0.92[ASN][1000 genomes]
rs7860856	0.81[ASN][1000 genomes]
rs961116	1.00[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	nsv892625	chr9:15326251-16064850	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2753625	chr9:15914055-15980320	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	lncRNA	n/a	inside rSNPs	diseases
3	nsv892637	chr9:15926508-16060746	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv949463	chr9:15970668-16377360	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3750402	CCDC171	cis	Esophagus Mucosa	GTEx

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15952600-15987600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr9:15955800-15972600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr9:15958400-15972200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr9:15971400-15974000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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