Variant report

Variant	rs17146625
Chromosome Location	chr5:119782997-119782998
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10042164	1.00[CHD][hapmap]
rs1503926	0.83[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17146596	0.93[EUR][1000 genomes]
rs17146610	0.93[EUR][1000 genomes]
rs17146612	0.93[EUR][1000 genomes]
rs1835869	0.93[EUR][1000 genomes]
rs58699148	0.83[AFR][1000 genomes]
rs60019001	0.93[EUR][1000 genomes]
rs60263195	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61113370	0.81[AFR][1000 genomes]
rs6595230	0.93[EUR][1000 genomes]
rs6595231	0.93[EUR][1000 genomes]
rs6887795	0.93[EUR][1000 genomes]
rs6891906	0.93[EUR][1000 genomes]
rs72786224	0.83[AFR][1000 genomes]
rs73783446	0.80[AFR][1000 genomes]
rs73783447	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73784933	0.93[EUR][1000 genomes]
rs73784937	0.87[EUR][1000 genomes]
rs73784938	0.93[EUR][1000 genomes]
rs73785926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785931	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785936	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73785937	0.93[EUR][1000 genomes]
rs73785938	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7712011	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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:31 , 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	chr5:119780400-119786400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr5:119780800-119784200	Enhancers	HUVEC	blood vessel
6	chr5:119780800-119786200	Enhancers	HSMM	muscle
7	chr5:119781000-119783800	Enhancers	NHLF	lung
8	chr5:119781000-119784000	Enhancers	NH-A	brain
9	chr5:119781000-119784000	Enhancers	Osteobl	bone
10	chr5:119781000-119784200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr5:119781000-119786200	Enhancers	HSMMtube	muscle
12	chr5:119781200-119783000	Enhancers	Fetal Lung	lung
13	chr5:119781400-119783000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:119781400-119783600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr5:119781400-119785000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr5:119781600-119783000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:119781600-119783200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:119781800-119783000	Enhancers	Duodenum Smooth Muscle	Duodenum
19	chr5:119781800-119783600	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr5:119781800-119783800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr5:119782000-119783000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr5:119782000-119783200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:119782000-119785800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr5:119782200-119785200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:119782400-119783400	Weak transcription	HMEC	breast
26	chr5:119782400-119783800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:119782600-119783400	Enhancers	Dnd41	blood
28	chr5:119782600-119786200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr5:119782800-119784000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:119782800-119784400	Enhancers	NHDF-Ad	bronchial
31	chr5:119782800-119790000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links