Variant report

Variant	rs17144520
Chromosome Location	chr5:118085428-118085429
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10519564	1.00[CHB][hapmap]
rs1110512	0.97[AFR][1000 genomes]
rs12109156	1.00[CHB][hapmap]
rs12109252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13152964	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13171299	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13174584	0.91[ASN][1000 genomes]
rs1448479	1.00[JPT][hapmap]
rs1510971	1.00[CHB][hapmap]
rs17132677	1.00[CHB][hapmap]
rs17144476	0.91[ASN][1000 genomes]
rs17144477	0.91[ASN][1000 genomes]
rs17144517	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144523	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17144526	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17144550	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs17144551	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17144552	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17144554	1.00[YRI][hapmap];0.97[AFR][1000 genomes]
rs17144714	1.00[JPT][hapmap]
rs17144824	1.00[CHB][hapmap]
rs17144836	1.00[CHB][hapmap]
rs17381247	1.00[JPT][hapmap]
rs17440213	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2029036	1.00[JPT][hapmap]
rs2115301	1.00[JPT][hapmap]
rs2193965	0.91[ASN][1000 genomes]
rs2217310	1.00[CHB][hapmap]
rs2377127	1.00[CHB][hapmap]
rs34694285	1.00[EUR][1000 genomes]
rs35740684	0.91[ASN][1000 genomes]
rs3813297	1.00[JPT][hapmap]
rs3813298	1.00[JPT][hapmap]
rs4634381	1.00[CHB][hapmap]
rs4895184	1.00[JPT][hapmap]
rs4895353	1.00[JPT][hapmap]
rs4895354	1.00[JPT][hapmap]
rs58999502	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6860946	1.00[CHB][hapmap]
rs6862297	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6863802	1.00[CHB][hapmap]
rs6870923	1.00[CHB][hapmap]
rs6871501	0.91[ASN][1000 genomes]
rs6874399	1.00[CHB][hapmap]
rs6880144	1.00[CHB][hapmap]
rs6892437	1.00[CHB][hapmap]
rs73249197	0.92[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73789377	0.97[AFR][1000 genomes]
rs73789435	0.84[ASN][1000 genomes]
rs7710339	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7724403	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7724753	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7727675	0.91[ASN][1000 genomes]
rs7734815	1.00[CHB][hapmap]
rs7737716	1.00[CHB][hapmap]
rs888710	0.97[AFR][1000 genomes]
rs888711	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032241	chr5:117900051-118157400	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv882767	chr5:117931730-118385691	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1034487	chr5:118047803-118085925	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17144520	CCDC112	cis	cerebellum	SCAN

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118084600-118085800	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr5:118084800-118085600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:118084800-118085600	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr5:118084800-118085600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:118085400-118088200	Weak transcription	Fetal Lung	lung

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