Variant report

Variant	rs4146434
Chromosome Location	chr14:63404794-63404795
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63403508..63406269-chr14:63411300..63414277,3	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs10047851	0.92[CEU][hapmap]
rs10047852	0.92[CEU][hapmap]
rs10047856	0.92[CEU][hapmap]
rs10047884	0.92[CEU][hapmap]
rs10047938	0.92[CEU][hapmap]
rs10130817	0.92[CEU][hapmap]
rs10135128	0.92[CEU][hapmap]
rs10135421	0.92[CEU][hapmap]
rs10135862	1.00[CEU][hapmap]
rs10136167	0.91[CEU][hapmap]
rs10138498	0.92[CEU][hapmap]
rs10139105	0.90[CEU][hapmap]
rs10139268	0.91[CEU][hapmap]
rs10139468	0.92[CEU][hapmap]
rs10140008	0.92[CEU][hapmap]
rs10146526	0.92[CEU][hapmap]
rs10146673	0.92[CEU][hapmap]
rs10146879	1.00[CEU][hapmap]
rs10147931	0.91[CEU][hapmap]
rs10148076	0.92[CEU][hapmap]
rs10483757	0.92[CEU][hapmap]
rs10483759	1.00[CEU][hapmap]
rs10483760	1.00[CEU][hapmap]
rs10873163	0.91[CEU][hapmap]
rs10873165	1.00[CEU][hapmap]
rs11158459	1.00[CHB][hapmap]
rs11623063	1.00[CHB][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs11625796	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs11846438	0.82[CHB][hapmap]
rs12100661	0.92[CEU][hapmap]
rs12147279	0.85[CEU][hapmap]
rs12431704	1.00[CHB][hapmap]
rs12586807	1.00[CEU][hapmap]
rs12587225	1.00[CEU][hapmap]
rs12587258	1.00[CEU][hapmap]
rs12588586	0.85[CEU][hapmap]
rs12589408	1.00[CEU][hapmap];0.90[GIH][hapmap];0.81[TSI][hapmap]
rs1543437	1.00[CEU][hapmap]
rs17100446	0.92[CEU][hapmap]
rs17100497	0.85[CEU][hapmap]
rs17223580	0.92[CEU][hapmap]
rs17223818	1.00[CEU][hapmap]
rs17223839	1.00[CEU][hapmap]
rs17223846	0.84[ASW][hapmap];1.00[CEU][hapmap]
rs17823609	0.92[CEU][hapmap]
rs17823807	1.00[CEU][hapmap]
rs1950568	0.92[CEU][hapmap]
rs1956018	0.92[CEU][hapmap]
rs1956026	1.00[CEU][hapmap]
rs1956027	0.86[CHB][hapmap];0.92[CHD][hapmap]
rs243155	0.83[CHB][hapmap]
rs243156	0.83[CHB][hapmap];0.86[CHD][hapmap]
rs243157	0.83[CHB][hapmap]
rs2860089	0.92[CEU][hapmap]
rs41419249	0.92[CEU][hapmap]
rs4146435	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4270090	1.00[CEU][hapmap]
rs4899096	0.92[CEU][hapmap]
rs4899100	0.92[CEU][hapmap]
rs4902191	0.92[CEU][hapmap]
rs4902192	1.00[CEU][hapmap]
rs4902193	1.00[CEU][hapmap]
rs7146868	0.85[CEU][hapmap]
rs7155227	1.00[CHB][hapmap];0.82[JPT][hapmap]
rs7155469	1.00[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs7156354	1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[JPT][hapmap];0.81[ASN][1000 genomes]
rs8004918	1.00[CEU][hapmap]
rs8007782	1.00[CEU][hapmap]
rs8013931	0.85[CEU][hapmap]
rs9323421	0.91[CEU][hapmap]
rs9323422	0.92[CEU][hapmap]
rs9888566	0.92[CEU][hapmap]
rs9888605	0.92[CEU][hapmap]
rs9972116	1.00[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4146434	JKAMP	cis	cerebellum	SCAN
rs4146434	SYT16	cis	cerebellum	SCAN
rs4146434	C14orf39	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63402800-63422600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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