Variant report

Variant	rs472412
Chromosome Location	chr3:140187811-140187812
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	chr3:140185147..140188078-chr3:140189944..140194087,5	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs349511	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs503088	0.80[EUR][1000 genomes]
rs505853	0.81[EUR][1000 genomes]
rs524554	0.82[EUR][1000 genomes]
rs531617	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs536767	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs549244	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs563342	0.82[EUR][1000 genomes]
rs564538	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757891	chr3:139925764-140524730	Enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv2759181	chr3:139925764-140524730	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv527831	chr3:139932966-140533823	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv34489	chr3:140009020-140469302	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2757012	chr3:140009220-140460228	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1004500	chr3:140021594-140189148	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv591863	chr3:140126067-140274442	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 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	chr3:140158200-140189000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr3:140181800-140188600	Strong transcription	Ovary	ovary
3	chr3:140185600-140192000	Enhancers	NHDF-Ad	bronchial
4	chr3:140185800-140188600	Enhancers	Muscle Satellite Cultured Cells	--
5	chr3:140185800-140190400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr3:140185800-140192200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:140186000-140189000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:140186000-140192400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:140186600-140188200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:140186600-140189200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr3:140186600-140191800	Weak transcription	HMEC	breast
12	chr3:140186600-140197800	Weak transcription	Adipose Nuclei	Adipose
13	chr3:140187000-140188000	Weak transcription	Placenta	Placenta
14	chr3:140187000-140190000	Weak transcription	A549	lung
15	chr3:140187000-140191200	Weak transcription	NH-A	brain
16	chr3:140187200-140189600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:140187400-140188400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:140187400-140189400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr3:140187400-140193600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:140187600-140188000	Weak transcription	Osteobl	bone
21	chr3:140187600-140188400	Weak transcription	HSMMtube	muscle
22	chr3:140187600-140189600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:140187600-140189600	Weak transcription	HSMM	muscle
24	chr3:140187600-140194800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr3:140187800-140188000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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