Variant report

Variant	rs17146612
Chromosome Location	chr5:119781326-119781327
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1503926	0.82[EUR][1000 genomes]
rs17146596	1.00[EUR][1000 genomes]
rs17146610	1.00[EUR][1000 genomes]
rs17146625	0.93[EUR][1000 genomes]
rs1835869	1.00[EUR][1000 genomes]
rs60019001	1.00[EUR][1000 genomes]
rs60263195	0.93[EUR][1000 genomes]
rs6595230	1.00[EUR][1000 genomes]
rs6595231	1.00[EUR][1000 genomes]
rs6887795	1.00[EUR][1000 genomes]
rs6891906	1.00[EUR][1000 genomes]
rs73783447	0.93[EUR][1000 genomes]
rs73784933	1.00[EUR][1000 genomes]
rs73784937	0.93[EUR][1000 genomes]
rs73784938	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785926	0.93[EUR][1000 genomes]
rs73785931	0.93[EUR][1000 genomes]
rs73785936	0.93[EUR][1000 genomes]
rs73785937	1.00[EUR][1000 genomes]
rs73785938	0.93[EUR][1000 genomes]
rs7712011	1.00[EUR][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	nsv532200	chr5:119317901-120102513	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1018955	chr5:119679918-119802014	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1020655	chr5:119729801-119781762	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1018100	chr5:119749898-119802014	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119777400-119784000	Enhancers	Fetal Heart	heart
2	chr5:119777800-119785200	Weak transcription	Psoas Muscle	Psoas
3	chr5:119779600-119783600	Weak transcription	Aorta	Aorta
4	chr5:119780200-119781400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:119780400-119782000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr5:119780800-119781400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:119780800-119782000	Enhancers	NHDF-Ad	bronchial
9	chr5:119780800-119784200	Enhancers	HUVEC	blood vessel
10	chr5:119780800-119786200	Enhancers	HSMM	muscle
11	chr5:119781000-119782000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr5:119781000-119782000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:119781000-119783800	Enhancers	NHLF	lung
14	chr5:119781000-119784000	Enhancers	NH-A	brain
15	chr5:119781000-119784000	Enhancers	Osteobl	bone
16	chr5:119781000-119784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
18	chr5:119781200-119781400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr5:119781200-119781600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr5:119781200-119781800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:119781200-119782400	Enhancers	HMEC	breast
22	chr5:119781200-119782800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:119781200-119783000	Enhancers	Fetal Lung	lung

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