Variant report

Variant	rs4481588
Chromosome Location	chr8:35490181-35490182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 58 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs13251122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13266983	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1439155	0.82[EUR][1000 genomes]
rs1439160	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1439162	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1866484	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1898828	0.82[EUR][1000 genomes]
rs1946745	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs2067700	0.82[EUR][1000 genomes]
rs2099682	0.82[EUR][1000 genomes]
rs2579901	0.82[EUR][1000 genomes]
rs2579903	0.82[EUR][1000 genomes]
rs2579904	0.82[EUR][1000 genomes]
rs2589334	0.82[EUR][1000 genomes]
rs2589335	0.82[EUR][1000 genomes]
rs2589336	0.81[EUR][1000 genomes]
rs2589339	0.81[AFR][1000 genomes]
rs2589343	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2589346	0.82[EUR][1000 genomes]
rs2589351	0.82[EUR][1000 genomes]
rs2589352	0.82[EUR][1000 genomes]
rs2589746	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2589747	0.82[EUR][1000 genomes]
rs2589755	0.82[EUR][1000 genomes]
rs2589761	0.81[EUR][1000 genomes]
rs2589762	0.82[EUR][1000 genomes]
rs2589763	0.82[EUR][1000 genomes]
rs2918955	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2918956	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918958	0.91[EUR][1000 genomes]
rs2918959	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2918964	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918965	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918973	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2918976	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2958249	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2958251	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2958252	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2958253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958254	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958256	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2958257	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978406	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2978567	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2978568	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2978569	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2978573	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2978576	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2978580	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2978581	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978583	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2978585	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4534130	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4739419	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv831285	chr8:35485874-35648117	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4481588	UNC5D	cis	parietal	SCAN
rs4481588	EIF4EBP1	cis	cerebellum	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35483600-35493800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr8:35486600-35494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:35486800-35494200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr8:35489000-35490400	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr8:35489000-35490800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:35489000-35491200	Weak transcription	Adipose Nuclei	Adipose
7	chr8:35489400-35490400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr8:35489400-35490600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:35489600-35490200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr8:35489600-35490200	Enhancers	H1 Cell Line	embryonic stem cell
11	chr8:35489600-35490400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:35489600-35494200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:35490000-35490400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:35490000-35490600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:35490000-35493800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:35490000-35494000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:35490000-35494400	Enhancers	Fetal Heart	heart

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