Variant report

Variant	rs1482381
Chromosome Location	chr2:213399007-213399008
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:212099679..212101187-chr2:213398262..213400932,2	MCF-7	breast:
2	chr2:213392043..213394903-chr2:213396609..213399566,4	MCF-7	breast:

Extended variants
information (count: 60 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10153722	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]
rs10165364	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10172512	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10178298	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10178687	0.88[CEU][hapmap]
rs10180614	0.88[CEU][hapmap]
rs10190653	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10193290	0.81[CEU][hapmap]
rs10196652	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.94[EUR][1000 genomes]
rs10497976	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11689233	1.00[CEU][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11695241	0.86[CEU][hapmap]
rs13382605	0.93[EUR][1000 genomes]
rs13387495	0.81[CEU][hapmap]
rs13388843	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13392407	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13394464	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13401008	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13411815	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13420607	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13422427	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1384291	0.88[CEU][hapmap]
rs1505348	0.81[CEU][hapmap]
rs1505349	0.81[CEU][hapmap]
rs1552161	0.87[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1586045	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs16848611	0.94[EUR][1000 genomes]
rs16848707	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16848787	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17260933	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]
rs17325381	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1813049	0.88[EUR][1000 genomes]
rs1813050	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1882352	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1921630	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1997470	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2086612	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2101151	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2204853	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs57473409	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57921759	0.80[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];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73989031	0.88[AFR][1000 genomes]
rs73989034	0.88[AFR][1000 genomes]
rs73989047	0.88[AFR][1000 genomes]
rs73989049	0.88[AFR][1000 genomes]
rs73989051	0.90[AFR][1000 genomes]
rs7564771	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs7568763	1.00[CEU][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9283525	0.88[CEU][hapmap]
rs972488	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs972489	1.00[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9808433	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs999946	1.00[CEU][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[AMR][1000 genomes];0.99[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	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
2	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
3	nsv1014479	chr2:213370690-213413231	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	nsv875812	chr2:213395507-213434856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1482381	IKZF2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:213391600-213399200	Enhancers	Fetal Heart	heart
2	chr2:213393000-213400800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr2:213393200-213400600	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr2:213395200-213399600	Enhancers	Brain Substantia Nigra	brain
5	chr2:213396600-213400000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:213397600-213400200	Enhancers	Brain Anterior Caudate	brain
7	chr2:213398400-213400000	Active TSS	Brain Germinal Matrix	brain
8	chr2:213398600-213399600	Enhancers	Brain Hippocampus Middle	brain
9	chr2:213398800-213399800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:213398800-213401000	Bivalent/Poised TSS	Fetal Brain Female	brain
11	chr2:213398800-213402600	Bivalent/Poised TSS	Fetal Kidney	kidney
12	chr2:213399000-213399200	Enhancers	Brain Angular Gyrus	brain
13	chr2:213399000-213399200	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr2:213399000-213399400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:213399000-213399400	Flanking Active TSS	Aorta	Aorta
16	chr2:213399000-213399400	Enhancers	Psoas Muscle	Psoas
17	chr2:213399000-213400800	Bivalent/Poised TSS	Fetal Brain Male	brain

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