Variant report

Variant	rs758235
Chromosome Location	chr14:72480860-72480861
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1009018	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes]
rs10873248	1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11158929	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850239	1.00[JPT][hapmap]
rs1978226	1.00[AFR][1000 genomes]
rs2052014	1.00[CEU][hapmap];0.96[TSI][hapmap];0.88[EUR][1000 genomes]
rs2108709	1.00[JPT][hapmap]
rs2190868	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190870	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2190871	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2190874	1.00[MKK][hapmap]
rs2238266	0.80[CEU][hapmap]
rs2877776	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36746	1.00[JPT][hapmap]
rs4899406	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs4899414	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899415	1.00[JPT][hapmap]
rs4899420	1.00[JPT][hapmap]
rs4902967	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4902968	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4902969	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4902970	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs4902973	1.00[JPT][hapmap]
rs4902975	1.00[JPT][hapmap]
rs728494	1.00[ASW][hapmap];1.00[MKK][hapmap]
rs757598	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003097	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004427	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs8014500	1.00[AFR][1000 genomes]
rs8017221	0.92[CEU][hapmap]
rs8017353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017799	0.93[CEU][hapmap]
rs917392	1.00[AFR][1000 genomes]

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	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

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs758235	FAM71D	cis	parietal	SCAN
rs758235	ACOT4	cis	cerebellum	SCAN
rs758235	ACYP1	cis	cerebellum	SCAN
rs758235	PIGH	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72479200-72481200	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr14:72480200-72481000	Enhancers	Brain Angular Gyrus	brain
3	chr14:72480200-72481400	Enhancers	Fetal Muscle Leg	muscle
4	chr14:72480400-72481000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:72480600-72481000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr14:72480600-72481000	Flanking Active TSS	Brain Anterior Caudate	brain
7	chr14:72480600-72481000	Active TSS	Brain Cingulate Gyrus	brain
8	chr14:72480800-72481000	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr14:72480800-72481000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr14:72480800-72481000	Enhancers	Brain Substantia Nigra	brain

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