Variant report

Variant	rs17146690
Chromosome Location	chr5:119842199-119842200
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:119835822..119838149-chr5:119840873..119842800,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10062669	1.00[CEU][hapmap];0.81[YRI][hapmap];0.93[EUR][1000 genomes]
rs10078298	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146687	1.00[ASW][hapmap];1.00[CEU][hapmap];0.84[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146688	1.00[CEU][hapmap];0.90[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146693	1.00[CEU][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146714	0.81[ASW][hapmap];1.00[CEU][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146715	1.00[CEU][hapmap];0.90[YRI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17146717	1.00[CEU][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2405952	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2604162	1.00[CEU][hapmap];0.88[YRI][hapmap];1.00[EUR][1000 genomes]
rs2691095	1.00[CEU][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs2691096	1.00[ASW][hapmap];1.00[CEU][hapmap];0.86[LWK][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.93[EUR][1000 genomes]
rs28702378	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56008932	1.00[EUR][1000 genomes]
rs56053702	1.00[EUR][1000 genomes]
rs60492181	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60693875	0.80[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6881030	1.00[CEU][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs6887667	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6893168	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs73783454	1.00[EUR][1000 genomes]
rs73783455	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	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

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119816600-119843000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:119818200-119845600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr5:119834400-119843600	Weak transcription	HSMMtube	muscle
4	chr5:119835800-119843000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:119836400-119852400	Weak transcription	HSMM	muscle
6	chr5:119838800-119842600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:119838800-119843600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
9	chr5:119840400-119842800	Weak transcription	Fetal Lung	lung

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