Variant report

Variant	rs34142537
Chromosome Location	chr12:47424033-47424034
allele	GA/TG
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10785651	0.84[ASN][1000 genomes]
rs10881039	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183699	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11183706	0.84[ASN][1000 genomes]
rs11183710	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11183711	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1989912	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2408647	0.87[AFR][1000 genomes]
rs2522269	0.87[AFR][1000 genomes]
rs4768770	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7134654	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7305847	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7956438	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7958568	0.88[EUR][1000 genomes]
rs7960974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7971310	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7971796	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7972871	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][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	esv1845143	chr12:47051076-47431496	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47418000-47428400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:47418400-47426600	Weak transcription	Muscle Satellite Cultured Cells	--
3	chr12:47419200-47426600	Weak transcription	Osteobl	bone
4	chr12:47423600-47426600	Weak transcription	Hela-S3	cervix
5	chr12:47423800-47426000	Weak transcription	A549	lung
6	chr12:47423800-47426600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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