Variant report

Variant	rs17744929
Chromosome Location	chr14:55972546-55972547
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10483641	1.00[ASN][1000 genomes]
rs10483645	1.00[AFR][1000 genomes]
rs10483646	1.00[AFR][1000 genomes]
rs10483648	1.00[AFR][1000 genomes]
rs10483650	1.00[AFR][1000 genomes]
rs12886406	1.00[AFR][1000 genomes]
rs17128484	1.00[ASN][1000 genomes]
rs17128488	1.00[ASN][1000 genomes]
rs17253716	1.00[AFR][1000 genomes]
rs17253723	1.00[AFR][1000 genomes]
rs17253744	1.00[AFR][1000 genomes]
rs17683614	1.00[AFR][1000 genomes]
rs17685078	1.00[AFR][1000 genomes]
rs17685102	1.00[AFR][1000 genomes]
rs17743484	1.00[ASN][1000 genomes]
rs17743595	1.00[ASN][1000 genomes]
rs17745017	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17745274	1.00[AFR][1000 genomes]
rs17745459	1.00[AFR][1000 genomes]
rs17832371	1.00[AFR][1000 genomes]
rs1959443	1.00[ASN][1000 genomes]
rs1984988	1.00[ASN][1000 genomes]
rs2147114	1.00[AFR][1000 genomes]
rs34136598	1.00[AFR][1000 genomes]
rs34446601	1.00[AFR][1000 genomes]
rs35230683	1.00[AFR][1000 genomes]
rs35536987	1.00[AFR][1000 genomes]
rs3736876	1.00[AFR][1000 genomes]
rs41299189	1.00[ASN][1000 genomes]
rs41437744	1.00[ASN][1000 genomes]
rs45458197	1.00[AFR][1000 genomes]
rs45501402	1.00[AFR][1000 genomes]
rs45612333	1.00[ASN][1000 genomes]
rs59169706	1.00[ASN][1000 genomes]
rs713473	1.00[ASN][1000 genomes]
rs713474	1.00[ASN][1000 genomes]
rs713475	1.00[ASN][1000 genomes]
rs71412688	1.00[AFR][1000 genomes]
rs71412689	1.00[AFR][1000 genomes]
rs71412690	1.00[AFR][1000 genomes]
rs71413577	1.00[AFR][1000 genomes]
rs71413578	1.00[AFR][1000 genomes]
rs7150841	1.00[AFR][1000 genomes]
rs8007065	1.00[AFR][1000 genomes]
rs8008528	1.00[AFR][1000 genomes]
rs8009239	1.00[AFR][1000 genomes]
rs8015252	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	nsv1047054	chr14:55922287-56035579	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv1037161	chr14:55928030-56039353	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17744929	C14orf33	cis	lymphoblastoid	seeQTL
rs17744929	KTN1	cis	multi-tissue	Pritchard
rs17744929	KTN1-AS1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55970800-55975200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:55972000-55975200	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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