Variant report

Variant	rs847297
Chromosome Location	chr14:72673097-72673098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs2158986	0.81[CHB][hapmap]
rs2158988	0.91[CEU][hapmap];0.95[CHB][hapmap];0.87[GIH][hapmap];0.92[MEX][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2238241	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238242	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2238245	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2529646	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2529647	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4902998	0.87[CEU][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57141704	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6574054	0.87[CEU][hapmap];0.81[CHB][hapmap];0.89[GIH][hapmap];0.84[TSI][hapmap];0.86[EUR][1000 genomes]
rs699360	0.87[CEU][hapmap];0.81[CHB][hapmap];0.85[EUR][1000 genomes]
rs699361	0.84[EUR][1000 genomes]
rs699362	0.87[CEU][hapmap];0.85[EUR][1000 genomes]
rs8022525	0.85[EUR][1000 genomes]
rs8022968	0.85[EUR][1000 genomes]
rs847259	0.81[CHB][hapmap]
rs847262	0.85[CHB][hapmap]
rs847264	0.85[CHB][hapmap]
rs847266	0.86[CHB][hapmap]
rs847268	0.86[CHB][hapmap]
rs847269	0.86[CHB][hapmap]
rs847270	0.87[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs847271	0.87[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs847272	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs847273	0.87[CEU][hapmap];0.86[CHB][hapmap]
rs847274	0.85[EUR][1000 genomes]
rs847275	0.86[CEU][hapmap];0.86[CHB][hapmap];0.85[EUR][1000 genomes]
rs847276	0.87[CEU][hapmap];0.85[CHB][hapmap];0.85[EUR][1000 genomes]
rs847277	0.85[EUR][1000 genomes]
rs847278	0.85[EUR][1000 genomes]
rs847279	0.86[EUR][1000 genomes]
rs847289	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs847302	0.87[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs847305	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs847307	0.87[CEU][hapmap];0.81[CHB][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs847308	0.87[CEU][hapmap];0.81[CHB][hapmap];0.80[MEX][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs847310	0.91[CEU][hapmap];0.86[CHB][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs847313	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847314	0.91[CEU][hapmap];0.81[CHB][hapmap];0.80[MEX][hapmap];0.83[TSI][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs847318	0.91[CEU][hapmap];0.90[CHB][hapmap];0.91[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs847319	0.91[CEU][hapmap];0.90[CHB][hapmap];0.89[GIH][hapmap];0.88[MEX][hapmap];0.90[TSI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs847320	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs847321	0.95[CEU][hapmap];0.95[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][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	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs847297	EXD2	cis	parietal	SCAN
rs847297	COX16	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72653600-72683000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:72671600-72674800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr14:72672200-72679400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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