Variant report

Variant	rs7958582
Chromosome Location	chr12:42377944-42377945
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1009723	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1016659	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1024700	0.91[EUR][1000 genomes]
rs10431604	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1064469	0.87[MEX][hapmap]
rs10748323	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10785320	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10785321	0.81[ASN][1000 genomes]
rs1226303	0.95[CEU][hapmap];0.91[MEX][hapmap];0.90[TSI][hapmap]
rs1233988	0.96[EUR][1000 genomes]
rs1233992	0.93[EUR][1000 genomes]
rs1233994	0.93[EUR][1000 genomes]
rs1233996	0.93[EUR][1000 genomes]
rs1234032	0.87[EUR][1000 genomes]
rs1234033	0.81[EUR][1000 genomes]
rs1234034	0.87[EUR][1000 genomes]
rs1234035	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1234037	0.89[EUR][1000 genomes]
rs1234038	0.89[EUR][1000 genomes]
rs1234040	0.89[EUR][1000 genomes]
rs1234052	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1234054	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12826710	0.82[EUR][1000 genomes]
rs1463613	0.95[CEU][hapmap]
rs1628871	0.94[CEU][hapmap]
rs1683195	0.83[MEX][hapmap]
rs1732351	0.95[CEU][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap]
rs1732352	0.95[CEU][hapmap]
rs1882139	0.90[EUR][1000 genomes]
rs2012636	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2091678	0.93[ASN][1000 genomes]
rs3990966	0.92[MEX][hapmap]
rs6582378	0.95[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs6582383	0.92[MEX][hapmap]
rs712106	0.95[CEU][hapmap]
rs7135851	0.92[MEX][hapmap]
rs7136038	0.85[EUR][1000 genomes]
rs7297464	0.92[MEX][hapmap]
rs7303028	0.95[CEU][hapmap];0.96[MEX][hapmap];0.89[TSI][hapmap]
rs7305763	0.85[EUR][1000 genomes]
rs7957081	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7958455	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7959852	0.92[MEX][hapmap]
rs7964383	0.92[MEX][hapmap]
rs7971943	0.92[MEX][hapmap]
rs824716	0.95[CEU][hapmap]
rs824724	0.95[CEU][hapmap]
rs824734	0.95[CEU][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap]
rs824738	0.90[CEU][hapmap]
rs844046	0.95[CEU][hapmap]
rs865420	0.95[CEU][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap]
rs917666	0.91[EUR][1000 genomes]

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:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:42375000-42378400	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr12:42376200-42378200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr12:42377000-42378000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:42377200-42378200	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr12:42377200-42378600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:42377400-42378000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:42377400-42378600	Weak transcription	Brain Germinal Matrix	brain
8	chr12:42377600-42378200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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