Variant report

Variant	rs7308219
Chromosome Location	chr12:20662465-20662466
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10770665	0.81[ASN][1000 genomes]
rs10770666	0.81[EUR][1000 genomes]
rs10841558	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10841560	0.89[ASN][1000 genomes]
rs10841561	0.87[ASN][1000 genomes]
rs12228896	0.82[ASN][1000 genomes]
rs12423118	0.86[ASN][1000 genomes]
rs12425566	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12813387	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12822341	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35340841	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35466062	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35529204	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35574173	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4561252	0.85[ASN][1000 genomes]
rs57544392	0.85[ASN][1000 genomes]
rs59143079	0.86[ASN][1000 genomes]
rs6487100	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6487101	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6487103	0.84[ASN][1000 genomes]
rs6487104	0.87[ASN][1000 genomes]
rs6487105	0.86[ASN][1000 genomes]
rs67369958	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7131827	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7316700	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7487165	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7955323	0.88[ASN][1000 genomes]
rs7955819	0.84[ASN][1000 genomes]
rs7959560	0.89[ASN][1000 genomes]
rs7965577	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969959	0.80[ASN][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	nsv1048067	chr12:20363755-20874845	Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv541408	chr12:20363755-20874845	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1046870	chr12:20509914-20711535	Active TSS Genic enhancers Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	nsv541409	chr12:20509914-20711535	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv1043890	chr12:20659151-21309993	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv541410	chr12:20659151-21309993	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:20647200-20664000	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr12:20660000-20665000	Strong transcription	Hela-S3	cervix
3	chr12:20660400-20664600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr12:20660800-20666600	Weak transcription	Colon Smooth Muscle	Colon
5	chr12:20660800-20667600	Weak transcription	Fetal Heart	heart
6	chr12:20660800-20672800	Weak transcription	Fetal Intestine Large	intestine
7	chr12:20661000-20662600	Enhancers	A549	lung
8	chr12:20661200-20667600	Weak transcription	Aorta	Aorta
9	chr12:20661200-20673200	Weak transcription	NHDF-Ad	bronchial
10	chr12:20662000-20670600	Weak transcription	Osteobl	bone
11	chr12:20662200-20665600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:20662200-20670600	Weak transcription	Right Atrium	heart
13	chr12:20662400-20663800	Weak transcription	Left Ventricle	heart
14	chr12:20662400-20666000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr12:20662400-20674600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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