Variant report

Variant	rs72986758
Chromosome Location	chr3:139099141-139099142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:139092808..139095647-chr3:139097281..139099201,2	MCF-7	breast:
2	chr3:139092666..139094303-chr3:139098082..139100914,2	K562	blood:
3	chr3:139072517..139075084-chr3:139096841..139099787,2	MCF-7	breast:
4	chr3:139062955..139064634-chr3:139097614..139100034,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175110	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10513077	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11924964	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11928018	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12107249	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1599926	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2289345	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2289346	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2307030	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34994114	0.94[ASN][1000 genomes]
rs56176652	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57459537	0.81[ASN][1000 genomes]
rs57490542	0.94[ASN][1000 genomes]
rs60077646	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61613815	0.94[ASN][1000 genomes]
rs6767503	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773840	1.00[ASN][1000 genomes]
rs6774691	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6781318	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6788896	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6797945	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804069	0.85[AMR][1000 genomes]
rs7612306	0.94[ASN][1000 genomes]
rs7619827	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7644878	0.82[AMR][1000 genomes]
rs7649535	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7651618	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9756378	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877543	chr3:139021139-139327261	Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
2	nsv1003154	chr3:139060841-139788752	ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv536729	chr3:139060841-139788752	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv949635	chr3:139091219-139367043	Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:139065000-139101200	Strong transcription	Primary T cells from cord blood	blood
2	chr3:139065000-139103800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr3:139065000-139103800	Strong transcription	HSMM	muscle
4	chr3:139065000-139104000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:139065200-139102000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:139065200-139102200	Strong transcription	Fetal Muscle Trunk	muscle
7	chr3:139065400-139102200	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr3:139065400-139102400	Strong transcription	Duodenum Mucosa	Duodenum
9	chr3:139065400-139102600	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr3:139065400-139102600	Strong transcription	Osteobl	bone
11	chr3:139065400-139103600	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr3:139065400-139103800	Strong transcription	Fetal Thymus	thymus
13	chr3:139065600-139100200	Strong transcription	Primary T helper cells PMA-I stimulated	--
14	chr3:139065600-139101800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:139065600-139102400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
16	chr3:139065600-139102400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr3:139065600-139102400	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr3:139065600-139103600	Strong transcription	HUVEC	blood vessel
19	chr3:139065600-139103600	Strong transcription	NH-A	brain
20	chr3:139065600-139103800	Strong transcription	Primary monocytes fromperipheralblood	blood
21	chr3:139065600-139103800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr3:139065800-139101600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr3:139065800-139101600	Strong transcription	Stomach Smooth Muscle	stomach
24	chr3:139065800-139102400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr3:139065800-139102400	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr3:139065800-139102600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:139065800-139102800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:139065800-139103200	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr3:139065800-139103600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr3:139065800-139104400	Strong transcription	Dnd41	blood
31	chr3:139066000-139101800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr3:139066000-139103600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr3:139066200-139099600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr3:139066200-139102400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr3:139066200-139103800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:139066400-139102400	Strong transcription	Placenta	Placenta
37	chr3:139071200-139102200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr3:139072800-139101600	Strong transcription	Placenta Amnion	Placenta Amnion
39	chr3:139073000-139101400	Strong transcription	Left Ventricle	heart
40	chr3:139073200-139099600	Strong transcription	Colon Smooth Muscle	Colon
41	chr3:139073200-139102200	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr3:139075000-139102200	Strong transcription	Adipose Nuclei	Adipose
43	chr3:139075200-139103800	Strong transcription	NHDF-Ad	bronchial
44	chr3:139078400-139104000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:139078600-139102400	Strong transcription	GM12878-XiMat	blood
46	chr3:139081800-139102400	Strong transcription	NHLF	lung
47	chr3:139082000-139101400	Strong transcription	Fetal Lung	lung
48	chr3:139082200-139102400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr3:139084800-139107800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr3:139086000-139103000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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