Variant report

Variant	rs12105546
Chromosome Location	chr2:151128431-151128432
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:151120019..151122991-chr2:151128298..151130076,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10930047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11890848	1.00[ASN][1000 genomes]
rs12105156	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55752244	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56812074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58559187	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61440562	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725023	1.00[MEX][hapmap]
rs6730644	1.00[MEX][hapmap]
rs73004268	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004270	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004273	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004276	1.00[ASN][1000 genomes]
rs73004278	1.00[ASN][1000 genomes]
rs73004279	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004280	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73004285	1.00[ASN][1000 genomes]
rs7558183	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 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	chr2:151113000-151138400	Weak transcription	Liver	Liver
2	chr2:151119400-151128600	Weak transcription	Aorta	Aorta
3	chr2:151121000-151128600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr2:151124600-151128600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:151125200-151128600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:151127800-151131200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:151128000-151129200	Enhancers	HMEC	breast
8	chr2:151128000-151129200	Enhancers	NHDF-Ad	bronchial
9	chr2:151128000-151129400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:151128000-151129400	Enhancers	Osteobl	bone
11	chr2:151128000-151129600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:151128000-151129600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr2:151128000-151129600	Enhancers	HSMM	muscle
14	chr2:151128000-151138400	Weak transcription	Psoas Muscle	Psoas
15	chr2:151128200-151129600	Enhancers	NHEK	skin
16	chr2:151128400-151129000	Flanking Active TSS	A549	lung
17	chr2:151128400-151129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:151128400-151129200	Enhancers	Colon Smooth Muscle	Colon
19	chr2:151128400-151129200	Enhancers	HSMMtube	muscle
20	chr2:151128400-151129200	Enhancers	NH-A	brain
21	chr2:151128400-151129200	Enhancers	NHLF	lung
22	chr2:151128400-151129400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:151128400-151129600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:151128400-151130000	Enhancers	Rectal Smooth Muscle	rectum

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