Variant report

Variant	rs12048472
Chromosome Location	chr1:225877941-225877942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:225868181..225870130-chr1:225876485..225878470,2	MCF-7	breast:
2	chr1:225871460..225874558-chr1:225874980..225880018,4	MCF-7	breast:
3	chr1:225840016..225842052-chr1:225877902..225879469,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154380	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10915872	1.00[YRI][hapmap]
rs12023665	1.00[YRI][hapmap]

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	nsv832725	chr1:225726998-225910121	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv832736	chr1:225815717-225968619	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS 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 miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225865400-225878600	Weak transcription	Right Atrium	heart
2	chr1:225865600-225888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr1:225873400-225878800	Weak transcription	Aorta	Aorta
4	chr1:225873600-225879200	Weak transcription	NHDF-Ad	bronchial
5	chr1:225875200-225898600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:225876000-225878800	Weak transcription	Stomach Mucosa	stomach
7	chr1:225876400-225880400	Weak transcription	Lung	lung
8	chr1:225876600-225878600	Weak transcription	Left Ventricle	heart
9	chr1:225876800-225878400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:225877200-225879000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr1:225877400-225878000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:225877400-225878000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:225877400-225878000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:225877400-225878000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:225877400-225878000	Enhancers	NHEK	skin
16	chr1:225877400-225878200	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:225877400-225878400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:225877400-225878600	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:225877400-225879000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:225877400-225882600	Enhancers	Osteobl	bone
21	chr1:225877600-225878000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:225877600-225878600	Weak transcription	Right Ventricle	heart
23	chr1:225877600-225880000	Weak transcription	Gastric	stomach
24	chr1:225877800-225878000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr1:225877800-225878000	Enhancers	Ovary	ovary
26	chr1:225877800-225878000	Enhancers	A549	lung
27	chr1:225877800-225882400	Enhancers	Skeletal Muscle Female	skeletal muscle

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