Variant report

Variant	rs72976956
Chromosome Location	chr3:138679647-138679648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:138671344..138677284-chr3:138678243..138683566,6	K562	blood:
2	chr3:138672783..138675327-chr3:138678243..138680215,2	K562	blood:
3	chr3:138678001..138680024-chr3:138682116..138684203,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12493711	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12497789	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs13064974	0.80[AFR][1000 genomes]
rs2018794	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs360709	0.87[ASN][1000 genomes]
rs360711	0.90[ASN][1000 genomes]
rs56679446	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57084332	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs57106095	0.84[EUR][1000 genomes]
rs57908668	0.84[EUR][1000 genomes]
rs58880010	0.81[AFR][1000 genomes]
rs58908753	0.85[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs59081321	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60291969	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60515064	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60650442	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60838328	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61408596	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6439830	0.84[EUR][1000 genomes]
rs6439831	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66475108	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67626684	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6780823	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72976944	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7617892	0.84[EUR][1000 genomes]
rs7620461	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7626152	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7629926	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7639044	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7639122	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7644875	0.89[EUR][1000 genomes]
rs7649365	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs931250	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530057	chr3:138014877-138734390	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1013074	chr3:138213166-138737688	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv1002612	chr3:138213274-138831792	Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv536726	chr3:138213274-138831792	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv1009726	chr3:138219923-138737688	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv869205	chr3:138248190-138775288	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv868955	chr3:138248190-138848947	Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv591854	chr3:138348081-138764229	Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv1010514	chr3:138365640-138737688	Flanking Bivalent TSS/Enh Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv917964	chr3:138440701-138699084	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv877542	chr3:138645013-138750904	Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:138673400-138683200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:138679200-138679800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
3	chr3:138679200-138679800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr3:138679200-138679800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:138679200-138679800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:138679200-138679800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:138679200-138679800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:138679200-138679800	Bivalent Enhancer	Liver	Liver
9	chr3:138679200-138679800	Bivalent/Poised TSS	Brain Germinal Matrix	brain
10	chr3:138679200-138679800	Bivalent Enhancer	Fetal Stomach	stomach
11	chr3:138679200-138679800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
12	chr3:138679200-138679800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
13	chr3:138679200-138679800	Bivalent/Poised TSS	HepG2	liver
14	chr3:138679200-138680000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:138679200-138680000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr3:138679200-138680000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr3:138679200-138680000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:138679200-138680000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr3:138679400-138679800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr3:138679400-138679800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:138679400-138679800	Bivalent Enhancer	Brain Hippocampus Middle	brain
22	chr3:138679400-138679800	Bivalent Enhancer	Fetal Brain Male	brain
23	chr3:138679400-138679800	Bivalent Enhancer	Fetal Muscle Leg	muscle
24	chr3:138679400-138679800	Enhancers	Lung	lung
25	chr3:138679400-138679800	Bivalent/Poised TSS	Right Ventricle	heart
26	chr3:138679400-138679800	Bivalent Enhancer	HMEC	breast
27	chr3:138679400-138679800	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
28	chr3:138679400-138679800	Bivalent Enhancer	NH-A	brain
29	chr3:138679400-138679800	Bivalent/Poised TSS	NHEK	skin
30	chr3:138679400-138680000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
31	chr3:138679400-138680000	Bivalent Enhancer	Fetal Thymus	thymus
32	chr3:138679400-138680400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr3:138679400-138680400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr3:138679400-138680400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:138679400-138680400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
36	chr3:138679400-138680600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr3:138679400-138680600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
38	chr3:138679600-138679800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
39	chr3:138679600-138679800	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr3:138679600-138679800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:138679600-138679800	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
42	chr3:138679600-138679800	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:138679600-138679800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
44	chr3:138679600-138679800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr3:138679600-138679800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr3:138679600-138679800	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr3:138679600-138679800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
48	chr3:138679600-138679800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
49	chr3:138679600-138679800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
50	chr3:138679600-138679800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain

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