Variant report

Variant	rs72952465
Chromosome Location	chr3:112097803-112097804
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	chr3:112090607..112092226-chr3:112097134..112099677,2	MCF-7	breast:
2	chr3:111832694..111835578-chr3:112096846..112099201,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs56980412	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs57654125	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57814913	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59514600	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59895987	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs60112764	0.93[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs61563653	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72952461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72952469	0.80[AFR][1000 genomes]

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	nsv877341	chr3:112079277-112125521	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv1002567	chr3:112088498-112144063	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	esv2830128	chr3:112090292-112144026	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv591294	chr3:112091220-112208750	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv591295	chr3:112093413-112113334	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
3	chr3:112091400-112098400	Enhancers	Adipose Nuclei	Adipose
4	chr3:112092800-112098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:112094000-112098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr3:112094200-112098400	Enhancers	Fetal Lung	lung
8	chr3:112094400-112100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr3:112094800-112098600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr3:112095200-112098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr3:112095200-112098800	Enhancers	Osteobl	bone
14	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
15	chr3:112095600-112098200	Enhancers	Fetal Kidney	kidney
16	chr3:112095600-112098400	Enhancers	NH-A	brain
17	chr3:112095600-112098600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr3:112095800-112098800	Enhancers	HMEC	breast
19	chr3:112096000-112098000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr3:112096000-112098400	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr3:112096000-112098400	Enhancers	Primary B cells from peripheral blood	blood
22	chr3:112096000-112098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr3:112096000-112098800	Enhancers	Primary B cells from cord blood	blood
24	chr3:112096400-112098600	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr3:112096600-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr3:112096600-112099400	Enhancers	Placenta	Placenta
27	chr3:112096800-112098600	Enhancers	HSMM	muscle
28	chr3:112097000-112098000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:112097000-112098000	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:112097000-112098200	Weak transcription	Fetal Muscle Leg	muscle
31	chr3:112097000-112098600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr3:112097000-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr3:112097000-112103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr3:112097200-112098200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:112097200-112098400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr3:112097200-112099400	Enhancers	Hela-S3	cervix
38	chr3:112097200-112101400	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:112097200-112101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr3:112097400-112098200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr3:112097600-112098400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr3:112097600-112098400	Flanking Active TSS	NHEK	skin
43	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:112097800-112098000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:112097800-112098000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr3:112097800-112098000	Enhancers	NHLF	lung
47	chr3:112097800-112098200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:112097800-112098200	Enhancers	Small Intestine	intestine

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