Variant report

Variant	rs72952469
Chromosome Location	chr3:112098650-112098651
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: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1386897	1.00[ASN][1000 genomes]
rs1586508	1.00[ASN][1000 genomes]
rs1872987	1.00[ASN][1000 genomes]
rs1996724	1.00[ASN][1000 genomes]
rs2029318	1.00[ASN][1000 genomes]
rs2087259	1.00[ASN][1000 genomes]
rs2129856	1.00[ASN][1000 genomes]
rs2244035	1.00[ASN][1000 genomes]
rs2263365	1.00[ASN][1000 genomes]
rs2633541	1.00[ASN][1000 genomes]
rs2633554	1.00[ASN][1000 genomes]
rs2633567	1.00[ASN][1000 genomes]
rs2633570	1.00[ASN][1000 genomes]
rs2633591	1.00[ASN][1000 genomes]
rs2633595	1.00[ASN][1000 genomes]
rs2633601	1.00[ASN][1000 genomes]
rs2633606	1.00[ASN][1000 genomes]
rs2633607	1.00[ASN][1000 genomes]
rs2633608	1.00[ASN][1000 genomes]
rs2683890	1.00[ASN][1000 genomes]
rs2683896	1.00[ASN][1000 genomes]
rs2683897	1.00[ASN][1000 genomes]
rs2683898	1.00[ASN][1000 genomes]
rs2683901	1.00[ASN][1000 genomes]
rs2683902	1.00[ASN][1000 genomes]
rs2683904	1.00[ASN][1000 genomes]
rs2931761	1.00[ASN][1000 genomes]
rs2971206	1.00[ASN][1000 genomes]
rs57814913	0.85[AFR][1000 genomes]
rs59514600	0.94[AFR][1000 genomes]
rs6781162	1.00[AMR][1000 genomes]
rs6799765	1.00[ASN][1000 genomes]
rs72952461	0.80[AFR][1000 genomes]
rs72952465	0.80[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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
6	nsv1004948	chr3:112098217-112113334	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
7	nsv999904	chr3:112098217-112114816	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a
8	nsv1010208	chr3:112098542-112227212	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 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	chr3:112094000-112098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr3:112094400-112100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:112095200-112098800	Enhancers	Osteobl	bone
9	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
10	chr3:112095800-112098800	Enhancers	HMEC	breast
11	chr3:112096000-112098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr3:112096000-112098800	Enhancers	Primary B cells from cord blood	blood
13	chr3:112096600-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr3:112096600-112099400	Enhancers	Placenta	Placenta
15	chr3:112097000-112103000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:112097000-112103800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr3:112097000-112105600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr3:112097200-112099400	Enhancers	Hela-S3	cervix
19	chr3:112097200-112101400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr3:112097200-112101600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:112097600-112110400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr3:112098000-112103800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:112098000-112108800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr3:112098200-112099200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr3:112098400-112099200	Enhancers	NHEK	skin
26	chr3:112098400-112099400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr3:112098400-112099400	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr3:112098400-112099400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr3:112098400-112099400	Enhancers	Primary hematopoietic stem cells	blood
30	chr3:112098400-112101800	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr3:112098400-112103800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:112098400-112108800	Weak transcription	NH-A	brain

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