Variant report

Variant	rs73120988
Chromosome Location	chr12:41671736-41671737
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11180595	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11504342	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12311702	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12315869	0.92[AMR][1000 genomes]
rs12318064	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12319621	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12320153	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs55829782	0.92[AMR][1000 genomes]
rs55877007	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73119019	1.00[AMR][1000 genomes]
rs73120954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120962	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73120983	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73121001	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73122803	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73122812	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73122813	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73122815	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73122829	0.91[EUR][1000 genomes]
rs73122848	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7316559	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7971737	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv497867	chr12:41286305-41728650	Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv899034	chr12:41515090-41698342	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv899035	chr12:41548545-41710912	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv469364	chr12:41631105-41710912	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv558699	chr12:41631105-41710912	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv558700	chr12:41665279-41710912	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:41670600-41672200	Enhancers	Brain Germinal Matrix	brain
2	chr12:41671200-41671800	Enhancers	Colon Smooth Muscle	Colon
3	chr12:41671200-41672000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:41671200-41684600	Weak transcription	Ovary	ovary
5	chr12:41671400-41674200	Weak transcription	Primary B cells from peripheral blood	blood
6	chr12:41671600-41671800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr12:41671600-41672000	Enhancers	Brain Angular Gyrus	brain
8	chr12:41671600-41672600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:41671600-41672800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr12:41671600-41672800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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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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