Variant report

Variant	rs17260933
Chromosome Location	chr2:213365022-213365023
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10153722	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10165364	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10172512	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10178298	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10178687	0.88[CEU][hapmap]
rs10180614	0.88[CEU][hapmap]
rs10190653	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10193290	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs10196652	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10497976	0.94[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11689233	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11695241	0.86[CEU][hapmap]
rs13382605	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13387495	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[LWK][hapmap]
rs13388843	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13392407	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13394464	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13401008	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13411815	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13420607	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13422427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1384291	0.88[CEU][hapmap]
rs1482381	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1505348	0.81[CEU][hapmap]
rs1505349	1.00[ASW][hapmap];0.81[CEU][hapmap];1.00[LWK][hapmap]
rs1552161	0.87[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1586045	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16848611	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16848707	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16848787	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17325381	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813049	0.88[EUR][1000 genomes]
rs1813050	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882351	0.83[AFR][1000 genomes]
rs1882352	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1921630	1.00[CEU][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1997470	1.00[CEU][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2086612	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2101151	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2204853	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57473409	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57921759	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6710782	0.83[CEU][hapmap]
rs6715328	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs6733009	0.93[CEU][hapmap];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7564771	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs7568763	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9283525	0.88[CEU][hapmap]
rs972488	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs972489	1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9808433	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs999946	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[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	nsv1004573	chr2:213186537-213365252	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv432024	chr2:213314899-213446726	Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv948878	chr2:213345197-213534298	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1008463	chr2:213356335-213388695	Enhancers ZNF genes & repeats Weak transcription Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17260933	IKZF2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213361400-213365800	Weak transcription	Fetal Heart	heart
2	chr2:213362400-213365600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:213364400-213365400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:213364600-213367200	Weak transcription	Brain Substantia Nigra	brain
5	chr2:213365000-213365600	Weak transcription	Brain Anterior Caudate	brain

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