Variant report

Variant	rs2012636
Chromosome Location	chr12:42356400-42356401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1009723	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1016659	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10431604	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1064469	0.91[MEX][hapmap]
rs10748323	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785320	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785321	0.81[ASN][1000 genomes]
rs1226303	0.90[CEU][hapmap];0.87[MEX][hapmap]
rs1233988	0.84[EUR][1000 genomes]
rs1234032	0.92[EUR][1000 genomes]
rs1234033	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1234034	0.92[EUR][1000 genomes]
rs1234035	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1234037	0.89[EUR][1000 genomes]
rs1234038	0.89[EUR][1000 genomes]
rs1234040	0.89[EUR][1000 genomes]
rs1234052	0.83[ASN][1000 genomes]
rs1234054	0.84[EUR][1000 genomes]
rs1463613	0.90[CEU][hapmap]
rs1628871	0.88[CEU][hapmap]
rs1732351	0.90[CEU][hapmap]
rs1732352	0.90[CEU][hapmap]
rs2091678	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3990966	0.96[MEX][hapmap]
rs6582378	0.90[CEU][hapmap];0.87[MEX][hapmap]
rs6582383	0.96[MEX][hapmap]
rs712106	0.90[CEU][hapmap]
rs7135851	0.96[MEX][hapmap]
rs7297464	0.96[MEX][hapmap]
rs7303028	0.90[CEU][hapmap];0.91[MEX][hapmap]
rs7957081	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7958455	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7958582	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7959852	0.96[MEX][hapmap]
rs7964383	0.96[MEX][hapmap]
rs7971943	0.96[MEX][hapmap]
rs824716	0.90[CEU][hapmap]
rs824724	0.90[CEU][hapmap]
rs824734	0.90[CEU][hapmap];0.91[MEX][hapmap]
rs824738	0.84[CEU][hapmap]
rs844046	0.90[CEU][hapmap]
rs865420	0.90[CEU][hapmap];0.87[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430505	chr12:42297931-42720773	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv832387	chr12:42345541-42465505	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42354200-42357400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:42354400-42356400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:42354400-42356400	Enhancers	Brain Germinal Matrix	brain
4	chr12:42355000-42356600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr12:42355200-42356400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:42355400-42361400	Weak transcription	Brain Anterior Caudate	brain
7	chr12:42355600-42356400	Enhancers	Fetal Intestine Large	intestine
8	chr12:42355800-42356400	Enhancers	Fetal Muscle Leg	muscle
9	chr12:42356000-42356400	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr12:42356200-42356400	Enhancers	Aorta	Aorta
11	chr12:42356400-42361400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:42356400-42361600	Weak transcription	Fetal Intestine Large	intestine
13	chr12:42356400-42361600	Weak transcription	Fetal Muscle Leg	muscle

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