Variant report

Variant	rs1539531
Chromosome Location	chr1:211082923-211082924
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:211081640..211084626-chr1:211086454..211089760,4	K562	blood:
2	chr1:211081640..211084385-chr1:211086454..211088372,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10863870	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10863874	0.92[CEU][hapmap];0.86[YRI][hapmap]
rs11119637	0.88[EUR][1000 genomes]
rs11485203	0.82[EUR][1000 genomes]
rs11582507	0.86[YRI][hapmap]
rs12121565	0.81[CEU][hapmap]
rs1393026	0.92[CEU][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.80[EUR][1000 genomes]
rs1501566	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1501567	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1501568	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1501569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1777250	0.82[CEU][hapmap];0.91[MEX][hapmap]
rs1875435	0.86[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1875438	0.82[CEU][hapmap];0.95[MEX][hapmap];0.81[AMR][1000 genomes]
rs2221250	0.87[YRI][hapmap]
rs33985151	0.87[YRI][hapmap]
rs61848994	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6669457	0.92[CEU][hapmap]
rs6678283	0.92[CEU][hapmap];0.91[MKK][hapmap];0.86[TSI][hapmap];0.87[YRI][hapmap];0.81[EUR][1000 genomes]
rs6697578	0.83[YRI][hapmap]
rs6698448	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7517771	0.81[EUR][1000 genomes]
rs7535286	0.80[EUR][1000 genomes]
rs7536519	0.92[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[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	nsv832503	chr1:210948760-211103163	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv873154	chr1:211057697-211117197	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv549124	chr1:211069694-211088474	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1539531	IKBKE	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211077000-211083000	Enhancers	Brain Hippocampus Middle	brain
2	chr1:211078400-211083000	Enhancers	Brain Substantia Nigra	brain
3	chr1:211078800-211083800	Enhancers	HSMMtube	muscle
4	chr1:211079800-211083000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:211079800-211083000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:211080400-211083000	Enhancers	Brain Angular Gyrus	brain
7	chr1:211080400-211085600	Enhancers	Liver	Liver
8	chr1:211080800-211083000	Enhancers	Pancreatic Islets	Pancreatic Islet
9	chr1:211080800-211083800	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr1:211081000-211083000	Enhancers	Brain Cingulate Gyrus	brain
11	chr1:211081200-211083800	Weak transcription	HSMM	muscle
12	chr1:211082000-211083200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:211082800-211085200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:211082800-211091000	Weak transcription	Brain Anterior Caudate	brain

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