Variant report

Variant	rs699363
Chromosome Location	chr14:72692493-72692494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10450927	1.00[CEU][hapmap]
rs1402057	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs17109000	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs17109096	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs2529648	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4902997	0.88[EUR][1000 genomes]
rs57597479	0.81[AFR][1000 genomes]
rs60179178	1.00[AMR][1000 genomes]
rs7146320	0.82[EUR][1000 genomes]
rs847233	1.00[TSI][hapmap]
rs847283	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847284	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847285	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847286	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847287	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847288	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs847290	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847291	1.00[CEU][hapmap]
rs847292	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847293	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847294	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847295	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847296	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs847300	1.00[CEU][hapmap]
rs847315	1.00[YRI][hapmap];0.93[AFR][1000 genomes]
rs847339	1.00[TSI][hapmap]

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	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1041492	chr14:72634606-72768970	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Obesity (extreme)	21935397	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72687800-72700200	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr14:72687800-72705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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