Variant report

Variant	rs3741582
Chromosome Location	chr12:122441231-122441232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122440790..122443569-chr12:122445704..122448468,2	MCF-7	breast:
2	chr12:122440832..122442485-chr12:122443851..122445815,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10840639	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840640	0.96[ASN][1000 genomes]
rs10840641	0.88[ASN][1000 genomes]
rs11043249	0.84[ASN][1000 genomes]
rs11043252	0.82[ASN][1000 genomes]
rs11043253	0.84[ASN][1000 genomes]
rs11043254	0.84[ASN][1000 genomes]
rs11043281	0.85[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11043287	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12231594	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177330	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58504997	0.84[ASN][1000 genomes]
rs59325626	0.84[ASN][1000 genomes]
rs6486785	0.84[ASN][1000 genomes]
rs7294458	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7298520	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7969138	0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs830127	0.80[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122422800-122442600	Weak transcription	Fetal Kidney	kidney
2	chr12:122430400-122441600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:122431000-122442000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:122435200-122441600	Weak transcription	Osteobl	bone
5	chr12:122435200-122442400	Weak transcription	Pancreas	Pancrea
6	chr12:122435400-122441800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr12:122438000-122441400	Weak transcription	NHLF	lung
8	chr12:122438000-122444400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:122438200-122441600	Weak transcription	Spleen	Spleen
10	chr12:122438600-122443600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:122439400-122441600	Enhancers	Dnd41	blood
12	chr12:122439400-122443200	Enhancers	Brain Substantia Nigra	brain
13	chr12:122439600-122441400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr12:122439800-122441800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:122439800-122441800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:122439800-122445200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr12:122440000-122441600	Enhancers	Fetal Thymus	thymus
18	chr12:122440000-122441800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:122440400-122441800	Enhancers	Thymus	Thymus
20	chr12:122440400-122443400	Enhancers	Brain Angular Gyrus	brain
21	chr12:122440400-122445800	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:122440600-122441600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:122440600-122441600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:122440600-122441600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:122440600-122441800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:122440600-122442000	Enhancers	HSMM	muscle
27	chr12:122440600-122442600	Enhancers	Primary B cells from peripheral blood	blood
28	chr12:122440600-122443000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr12:122440600-122443400	Enhancers	Brain Hippocampus Middle	brain
30	chr12:122440800-122443400	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:122440800-122445000	Weak transcription	Brain Germinal Matrix	brain
32	chr12:122441000-122442000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:122441000-122442000	Enhancers	HSMMtube	muscle
34	chr12:122441000-122442200	Strong transcription	NHEK	skin
35	chr12:122441000-122442600	Enhancers	Primary B cells from cord blood	blood
36	chr12:122441000-122443400	Enhancers	Fetal Stomach	stomach
37	chr12:122441000-122445600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:122441200-122442000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr12:122441200-122442600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:122441200-122443000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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