Variant report

Variant	rs1147725
Chromosome Location	chr3:120215890-120215891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1147723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147726	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259313	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259316	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259317	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1259319	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1012127	chr3:120015620-120272893	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv536707	chr3:120015620-120272893	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120206000-120216800	Weak transcription	Aorta	Aorta
2	chr3:120213600-120217200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr3:120214600-120218400	Enhancers	Rectal Smooth Muscle	rectum
4	chr3:120214600-120218400	Enhancers	HUVEC	blood vessel
5	chr3:120214800-120216400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr3:120214800-120216600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr3:120214800-120217600	Enhancers	Colon Smooth Muscle	Colon
8	chr3:120214800-120217800	Enhancers	Fetal Stomach	stomach
9	chr3:120214800-120218400	Enhancers	Hela-S3	cervix
10	chr3:120214800-120218600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr3:120214800-120218800	Enhancers	NHLF	lung
12	chr3:120215200-120216200	Enhancers	NHEK	skin
13	chr3:120215200-120216800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr3:120215200-120218200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:120215200-120218200	Enhancers	HMEC	breast
16	chr3:120215200-120218400	Enhancers	Fetal Kidney	kidney
17	chr3:120215400-120216000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr3:120215400-120216200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:120215400-120216200	Enhancers	HSMMtube	muscle
20	chr3:120215400-120216400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr3:120215400-120216400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr3:120215400-120216400	Flanking Active TSS	NH-A	brain
23	chr3:120215400-120216800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr3:120215400-120217000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr3:120215400-120217000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr3:120215400-120218200	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr3:120215400-120218400	Enhancers	HSMM	muscle
28	chr3:120215600-120216000	Enhancers	NHDF-Ad	bronchial
29	chr3:120215600-120216000	Enhancers	Osteobl	bone
30	chr3:120215600-120216800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr3:120215600-120217600	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr3:120215600-120217800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr3:120215600-120217800	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr3:120215600-120219600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:120215800-120217600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr3:120215800-120217600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:120215800-120217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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