Variant report

Variant	rs17146717
Chromosome Location	chr5:119851552-119851553
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:119803768..119806455-chr5:119850808..119853040,2	K562	blood:
2	chr5:119848832..119850459-chr5:119850972..119852496,2	K562	blood:
3	chr5:119803768..119806715-chr5:119850808..119853246,2	K562	blood:
4	chr5:119798174..119800652-chr5:119851053..119853705,2	K562	blood:
5	chr5:119801016..119803100-chr5:119851238..119853983,3	K562	blood:

Variant related genes	Relation type
ENSG00000184838	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10062669	1.00[CEU][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10078298	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17146687	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs17146688	1.00[CEU][hapmap];0.86[YRI][hapmap];0.93[EUR][1000 genomes]
rs17146690	1.00[CEU][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs17146693	1.00[CEU][hapmap];0.91[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146714	1.00[CEU][hapmap];0.95[YRI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146715	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2405952	1.00[CEU][hapmap];0.95[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2604162	1.00[CEU][hapmap];0.85[YRI][hapmap];0.93[EUR][1000 genomes]
rs2691095	1.00[CEU][hapmap];0.91[YRI][hapmap];0.87[EUR][1000 genomes]
rs2691096	1.00[CEU][hapmap];0.90[YRI][hapmap];0.87[EUR][1000 genomes]
rs28702378	0.93[EUR][1000 genomes]
rs56008932	0.93[EUR][1000 genomes]
rs56053702	0.93[EUR][1000 genomes]
rs60492181	0.93[EUR][1000 genomes]
rs60693875	0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6881030	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs6887667	0.87[EUR][1000 genomes]
rs6893168	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs73783454	0.93[EUR][1000 genomes]
rs73783455	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv830463	chr5:119806643-119968825	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv462427	chr5:119838923-119928674	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv599601	chr5:119838923-119928674	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1031453	chr5:119843593-120393038	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119836400-119852400	Weak transcription	HSMM	muscle
2	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
3	chr5:119842600-119852400	Weak transcription	Aorta	Aorta
4	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr5:119845000-119852200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr5:119846400-119852600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr5:119847000-119852200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr5:119847000-119852200	Weak transcription	Osteobl	bone
9	chr5:119848000-119852200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:119848000-119852200	Weak transcription	NH-A	brain
11	chr5:119848200-119852200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:119848200-119852400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:119849200-119852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:119851400-119852400	Weak transcription	K562	blood
15	chr5:119851400-119853400	Enhancers	NHDF-Ad	bronchial

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