Variant report

Variant	rs1814592
Chromosome Location	chr12:122438187-122438188
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122421327..122423093-chr12:122436521..122439319,2	K562	blood:
2	chr12:122437989..122441020-chr12:122459413..122461657,5	MCF-7	breast:
3	chr12:122435633..122438414-chr12:122458889..122461099,2	MCF-7	breast:
4	chr12:122427709..122429547-chr12:122437047..122438935,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110987	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1169076	0.94[ASN][1000 genomes]
rs1169081	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1169083	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1169084	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1169086	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1169087	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1169091	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1179947	0.98[ASN][1000 genomes]
rs1184893	0.87[ASN][1000 genomes]
rs12578258	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12579389	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1678970	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs17852561	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2009257	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2018749	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2272133	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2309275	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35252940	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55929316	0.83[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs59972569	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7313748	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs745327	0.84[ASN][1000 genomes]
rs830115	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs830121	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122396600-122439200	Weak transcription	Brain Anterior Caudate	brain
2	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
3	chr12:122430400-122441000	Weak transcription	HSMMtube	muscle
4	chr12:122430400-122441600	Weak transcription	Primary T cells from cord blood	blood
5	chr12:122430800-122438800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:122431000-122442000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr12:122433200-122438600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:122435000-122440600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:122435200-122438800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:122435200-122439000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:122435200-122439200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:122435200-122439400	Weak transcription	Brain Hippocampus Middle	brain
13	chr12:122435200-122441200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr12:122435200-122441600	Weak transcription	Osteobl	bone
15	chr12:122435200-122442400	Weak transcription	Pancreas	Pancrea
16	chr12:122435400-122438800	Weak transcription	HMEC	breast
17	chr12:122435400-122440600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:122435400-122441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:122435800-122441000	Weak transcription	Primary B cells from cord blood	blood
20	chr12:122436000-122439400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:122437200-122439200	Weak transcription	NHEK	skin
22	chr12:122437400-122438200	Strong transcription	Thymus	Thymus
23	chr12:122437600-122438200	ZNF genes & repeats	Spleen	Spleen
24	chr12:122437800-122438400	ZNF genes & repeats	Fetal Thymus	thymus
25	chr12:122438000-122441400	Weak transcription	NHLF	lung
26	chr12:122438000-122444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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