Variant report

Variant	rs300957
Chromosome Location	chr5:119856511-119856512
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10035683	0.81[CEU][hapmap]
rs10052263	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10060164	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10064623	0.81[CEU][hapmap]
rs10064951	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10213989	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[EUR][1000 genomes]
rs10477605	0.81[CEU][hapmap]
rs10478472	0.81[CEU][hapmap]
rs10478473	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10478474	0.81[CEU][hapmap]
rs10519636	0.87[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13361121	0.81[CEU][hapmap]
rs1378262	0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1454982	0.94[EUR][1000 genomes]
rs16766	0.93[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes]
rs17146657	1.00[CHB][hapmap]
rs17146662	1.00[CHB][hapmap]
rs1823926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1823927	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2601208	1.00[CHB][hapmap]
rs2655066	0.81[CEU][hapmap]
rs2691097	0.87[CEU][hapmap];1.00[CHB][hapmap]
rs2691100	0.81[CEU][hapmap]
rs300956	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4895261	0.93[CEU][hapmap]
rs6595239	0.81[CEU][hapmap]
rs6892665	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6895369	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7702580	1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs7710004	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes]
rs7710626	0.81[CEU][hapmap]
rs7710928	0.85[CEU][hapmap]
rs7715549	1.00[CHB][hapmap]
rs7733602	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs921782	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes]
rs9327145	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.95[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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:119839800-119879800	Weak transcription	Psoas Muscle	Psoas
2	chr5:119844200-119864200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr5:119853200-119863000	Weak transcription	HSMM	muscle
4	chr5:119853400-119864000	Weak transcription	NHDF-Ad	bronchial
5	chr5:119853800-119862800	Weak transcription	HSMMtube	muscle
6	chr5:119854000-119868800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr5:119854600-119858000	Weak transcription	NH-A	brain
8	chr5:119854600-119859000	Weak transcription	K562	blood
9	chr5:119854600-119864000	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr5:119854600-119864200	Weak transcription	Osteobl	bone
11	chr5:119855000-119856600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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