Variant report

Variant	rs12611915
Chromosome Location	chr2:100862195-100862196
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10170878	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10173499	0.84[MEX][hapmap];0.94[TSI][hapmap];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10199107	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12463633	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12464433	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12464505	0.83[CEU][hapmap]
rs12467008	0.83[CEU][hapmap];0.97[TSI][hapmap]
rs12472141	0.84[MEX][hapmap];0.94[TSI][hapmap];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13397010	0.80[EUR][1000 genomes]
rs13397337	0.94[TSI][hapmap]
rs17023825	0.82[ASN][1000 genomes]
rs17023838	0.82[ASN][1000 genomes]
rs17023843	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2871341	0.82[TSI][hapmap]
rs34044131	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4851282	0.86[TSI][hapmap]
rs6707358	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6722320	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6724490	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6727712	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6748892	0.82[ASN][1000 genomes]
rs72819202	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72821104	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72821119	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72821120	0.87[AMR][1000 genomes]
rs72821122	0.87[AMR][1000 genomes]
rs72821124	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72821125	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72821126	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72821130	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72821133	0.84[AMR][1000 genomes];0.81[EUR][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	nsv1007777	chr2:100816913-101308914	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv535844	chr2:100816913-101308914	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv834311	chr2:100816917-100990036	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12611915	MEOX2	trans	cerebellum	SCAN
rs12611915	LONRF2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100855200-100865600	Weak transcription	Thymus	Thymus
2	chr2:100856600-100862800	Weak transcription	Fetal Brain Male	brain
3	chr2:100857200-100862800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:100858000-100862800	Enhancers	Primary B cells from peripheral blood	blood
5	chr2:100858400-100867800	Enhancers	Primary B cells from cord blood	blood
6	chr2:100858600-100863000	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:100859400-100863000	Weak transcription	Right Ventricle	heart
8	chr2:100859400-100863600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:100859800-100862400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:100859800-100862400	Weak transcription	Fetal Muscle Leg	muscle
11	chr2:100859800-100864000	Weak transcription	Fetal Thymus	thymus
12	chr2:100859800-100869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr2:100860000-100862800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:100860400-100862800	Weak transcription	Fetal Lung	lung
15	chr2:100860800-100862600	Weak transcription	Placenta	Placenta
16	chr2:100861200-100862800	ZNF genes & repeats	GM12878-XiMat	blood
17	chr2:100861200-100863000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:100861600-100862200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr2:100861600-100862400	Enhancers	Osteobl	bone
20	chr2:100861600-100863000	Enhancers	NH-A	brain
21	chr2:100861800-100862400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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