Variant report

Variant	rs12186112
Chromosome Location	chr3:118922654-118922655
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:118916389..118918845-chr3:118921672..118924388,2	MCF-7	breast:
2	chr3:118922153..118924777-chr3:118944047..118945599,2	K562	blood:

Variant related genes	Relation type
ENSG00000240254	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10934487	0.92[EUR][1000 genomes]
rs11707848	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11709534	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2866469	0.96[EUR][1000 genomes]
rs4568126	0.95[EUR][1000 genomes]
rs4643703	0.94[EUR][1000 genomes]
rs55976900	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56397355	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62263545	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62263546	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62263547	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62265180	0.95[EUR][1000 genomes]
rs7628485	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7651368	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv591362	chr3:118906442-118948155	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea
2	chr3:118903400-118924200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr3:118904600-118936400	Weak transcription	Gastric	stomach
4	chr3:118908400-118928200	Weak transcription	Fetal Stomach	stomach
5	chr3:118911800-118932600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:118914200-118923800	Weak transcription	Stomach Mucosa	stomach
7	chr3:118915000-118924000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:118915000-118925200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr3:118915200-118922800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:118915200-118924000	Weak transcription	NHEK	skin
11	chr3:118915200-118928400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:118915200-118934800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:118917800-118925200	Weak transcription	Left Ventricle	heart
14	chr3:118919000-118925600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr3:118920400-118930400	Weak transcription	Fetal Kidney	kidney
16	chr3:118921000-118928000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr3:118921400-118931200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr3:118922200-118927400	Weak transcription	HSMM	muscle
19	chr3:118922400-118923200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:118922600-118922800	Genic enhancers	A549	lung
21	chr3:118922600-118923800	Enhancers	Primary T cells from cord blood	blood
22	chr3:118922600-118924600	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr3:118922600-118925400	Weak transcription	Lung	lung
24	chr3:118922600-118929000	Weak transcription	Spleen	Spleen

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