Variant report

Variant	rs72952463
Chromosome Location	chr3:112096685-112096686
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10934170	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11708769	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12635015	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12635872	0.85[EUR][1000 genomes]
rs16859507	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1906520	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2895396	0.95[EUR][1000 genomes]
rs2971203	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57661530	0.81[EUR][1000 genomes]
rs60204227	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72952411	0.81[EUR][1000 genomes]
rs72952437	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72952454	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9863371	0.82[EUR][1000 genomes]
rs9867245	0.95[EUR][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:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:112077600-112107200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr3:112084800-112096800	Weak transcription	Fetal Muscle Leg	muscle
3	chr3:112085800-112101400	Weak transcription	Aorta	Aorta
4	chr3:112091400-112098400	Enhancers	Adipose Nuclei	Adipose
5	chr3:112092800-112098000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr3:112093400-112097000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr3:112094000-112098800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr3:112094000-112099600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr3:112094200-112098400	Enhancers	Fetal Lung	lung
10	chr3:112094400-112097000	Enhancers	Right Atrium	heart
11	chr3:112094400-112100200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr3:112094400-112104400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:112094600-112097600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr3:112094800-112096800	Enhancers	HUVEC	blood vessel
15	chr3:112094800-112098600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr3:112095000-112097000	Enhancers	Duodenum Mucosa	Duodenum
17	chr3:112095000-112104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:112095200-112098400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:112095200-112098800	Enhancers	Osteobl	bone
20	chr3:112095400-112096800	Enhancers	Stomach Mucosa	stomach
21	chr3:112095400-112097200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr3:112095400-112097200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr3:112095400-112103600	Weak transcription	Fetal Thymus	thymus
24	chr3:112095600-112096800	Weak transcription	Ovary	ovary
25	chr3:112095600-112097400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr3:112095600-112097600	Enhancers	NHEK	skin
27	chr3:112095600-112097800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr3:112095600-112098200	Enhancers	Fetal Kidney	kidney
29	chr3:112095600-112098400	Enhancers	NH-A	brain
30	chr3:112095600-112098600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:112095800-112098800	Enhancers	HMEC	breast
32	chr3:112096000-112096800	Enhancers	H9 Cell Line	embryonic stem cell
33	chr3:112096000-112097000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:112096000-112097200	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr3:112096000-112098000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr3:112096000-112098400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr3:112096000-112098400	Enhancers	Primary B cells from peripheral blood	blood
38	chr3:112096000-112098800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:112096000-112098800	Enhancers	Primary B cells from cord blood	blood
40	chr3:112096200-112096800	Weak transcription	Fetal Stomach	stomach
41	chr3:112096200-112097200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr3:112096400-112096800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr3:112096400-112097000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr3:112096400-112097000	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr3:112096400-112097000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:112096400-112097000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr3:112096400-112098600	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr3:112096600-112096800	Enhancers	Left Ventricle	heart
49	chr3:112096600-112096800	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr3:112096600-112096800	Enhancers	Small Intestine	intestine

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