Variant report

Variant	rs7952833
Chromosome Location	chr12:118870640-118870641
allele	G/T
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:25)

rs_ID	r²[population]
rs1013641	0.93[EUR][1000 genomes]
rs1503770	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17625679	0.84[EUR][1000 genomes]
rs1971322	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2062522	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34365267	0.93[EUR][1000 genomes]
rs4304821	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4366521	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484838	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs492939	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs503548	0.95[YRI][hapmap]
rs519480	0.81[AFR][1000 genomes]
rs55957752	0.89[EUR][1000 genomes]
rs571113	1.00[YRI][hapmap]
rs58833755	0.93[EUR][1000 genomes]
rs60840022	0.84[EUR][1000 genomes]
rs7136004	0.96[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307953	0.96[ASN][1000 genomes]
rs7316527	0.85[EUR][1000 genomes]
rs7795	0.96[CEU][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7966814	0.93[EUR][1000 genomes]
rs7970613	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974630	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7980279	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs955134	0.87[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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv899547	chr12:118791441-118896304	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv930978	chr12:118866332-119450600	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr12:118854000-118870800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118854600-118870800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:118854600-118874400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr12:118854800-118874400	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr12:118855200-118874200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:118857000-118874400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr12:118868000-118871000	Weak transcription	Gastric	stomach
8	chr12:118868000-118871000	Weak transcription	Lung	lung
9	chr12:118870000-118871400	Enhancers	NHDF-Ad	bronchial
10	chr12:118870600-118870800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:118870600-118871200	Enhancers	Muscle Satellite Cultured Cells	--
12	chr12:118870600-118871600	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr12:118870600-118871800	Enhancers	Duodenum Mucosa	Duodenum

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