Variant report

Variant	rs10847826
Chromosome Location	chr12:123314899-123314900
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123313753..123316707-chr12:123318570..123321464,4	MCF-7	breast:
2	chr12:123312008..123315586-chr12:123318502..123321781,4	K562	blood:
3	chr12:123312382..123316622-chr12:123318766..123321741,4	MCF-7	breast:
4	chr12:123314439..123317163-chr12:123634963..123637139,2	K562	blood:

Variant related genes	Relation type
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10744422	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10744434	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10773627	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10773657	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10847869	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11060208	0.83[ASN][1000 genomes]
rs11060209	0.92[ASN][1000 genomes]
rs12255	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12298664	0.90[ASN][1000 genomes]
rs12299742	0.88[ASN][1000 genomes]
rs12314494	0.90[ASN][1000 genomes]
rs12314544	0.90[ASN][1000 genomes]
rs12319654	0.90[ASN][1000 genomes]
rs12426809	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532835	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1587856	0.87[EUR][1000 genomes]
rs1671685	0.90[ASN][1000 genomes]
rs1696326	0.90[ASN][1000 genomes]
rs1696349	0.90[ASN][1000 genomes]
rs1799618	0.90[ASN][1000 genomes]
rs1979236	0.90[ASN][1000 genomes]
rs1979237	0.90[ASN][1000 genomes]
rs2061098	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2061101	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2100500	0.90[ASN][1000 genomes]
rs2135014	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2271049	0.83[ASN][1000 genomes]
rs2271050	0.80[ASN][1000 genomes]
rs2292131	0.90[ASN][1000 genomes]
rs2292132	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292134	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2292135	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2292136	0.82[ASN][1000 genomes]
rs2292138	0.87[EUR][1000 genomes]
rs2343108	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2343109	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2343685	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2649908	0.89[ASN][1000 genomes]
rs2649909	0.90[ASN][1000 genomes]
rs2880678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817094	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3825143	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3852536	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3852537	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3896870	0.84[ASN][1000 genomes]
rs4759355	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4759381	0.87[EUR][1000 genomes]
rs4759382	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4759386	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4759387	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4759389	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4759392	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56272219	0.90[ASN][1000 genomes]
rs59922385	0.90[ASN][1000 genomes]
rs60308342	0.88[ASN][1000 genomes]
rs7138398	0.87[EUR][1000 genomes]
rs7139055	0.85[EUR][1000 genomes]
rs7294991	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7303024	0.90[ASN][1000 genomes]
rs7309225	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73421642	0.90[ASN][1000 genomes]
rs735378	0.90[ASN][1000 genomes]
rs7398546	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs754080	0.90[ASN][1000 genomes]
rs7959441	0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7972447	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7980541	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs897385	0.87[EUR][1000 genomes]
rs897386	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs897391	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs897392	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs897393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs921808	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs936083	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs937520	0.88[ASN][1000 genomes]
rs937766	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123305800-123318800	Weak transcription	Pancreas	Pancrea
2	chr12:123310400-123319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:123311000-123315200	Weak transcription	K562	blood
4	chr12:123311000-123318800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:123311200-123315200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:123311200-123318200	Weak transcription	Fetal Brain Female	brain
7	chr12:123311200-123319000	Weak transcription	Aorta	Aorta
8	chr12:123311400-123315400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:123311400-123315600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:123311400-123318800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr12:123311600-123315200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr12:123311600-123315600	Weak transcription	NHLF	lung
13	chr12:123311600-123318800	Weak transcription	NHDF-Ad	bronchial
14	chr12:123312200-123315200	Weak transcription	NHEK	skin
15	chr12:123312200-123318800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr12:123312400-123315200	Weak transcription	A549	lung
17	chr12:123312400-123315600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:123312400-123318800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:123312400-123318800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr12:123312400-123318800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:123312400-123318800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:123312400-123318800	Weak transcription	Brain Substantia Nigra	brain
23	chr12:123312600-123315200	Weak transcription	Stomach Mucosa	stomach
24	chr12:123312600-123318800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:123313800-123319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links