Variant report

Variant	rs8007566
Chromosome Location	chr14:72705173-72705174
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1012220	0.81[ASN][1000 genomes]
rs10136881	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149098	0.82[JPT][hapmap]
rs11848300	0.85[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12432346	0.82[JPT][hapmap]
rs12883593	0.81[CHB][hapmap]
rs1402058	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1402061	0.85[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1520330	0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1544487	0.82[JPT][hapmap]
rs17769097	0.85[CHB][hapmap];0.81[AMR][1000 genomes]
rs1949560	0.81[ASN][1000 genomes]
rs1949561	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2108467	0.81[ASN][1000 genomes]
rs2190627	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2238227	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2238243	0.80[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2238244	0.80[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs2239257	0.82[JPT][hapmap]
rs2283406	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2283407	0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2283408	0.86[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2283409	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2332806	0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2332807	0.82[JPT][hapmap]
rs28678452	0.83[AMR][1000 genomes]
rs6574055	0.82[JPT][hapmap]
rs7141299	0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7157673	0.86[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7350728	0.82[JPT][hapmap]
rs740337	0.82[JPT][hapmap]
rs763507	0.80[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs8007922	0.82[JPT][hapmap]
rs977340	0.82[AMR][1000 genomes];0.81[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72687800-72705800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr14:72699800-72719600	Weak transcription	Right Ventricle	heart
3	chr14:72700600-72709800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72703400-72706600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:72704000-72706800	Enhancers	Primary B cells from peripheral blood	blood

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