Variant report

Variant	rs17444885
Chromosome Location	chr5:126798783-126798784
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10519936	0.85[CEU][hapmap]
rs10519938	0.85[CEU][hapmap]
rs11950427	0.85[CEU][hapmap];0.83[EUR][1000 genomes]
rs12233927	0.85[CEU][hapmap]
rs1363388	0.85[CEU][hapmap]
rs17164935	1.00[CEU][hapmap]
rs17165090	0.85[CEU][hapmap]
rs17604615	1.00[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17604665	0.92[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604777	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604819	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604882	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17604889	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17604946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17673474	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17673517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17673685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17673995	0.96[EUR][1000 genomes]
rs17839690	0.82[EUR][1000 genomes]
rs2068168	1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2408871	0.85[CEU][hapmap];0.85[JPT][hapmap];0.83[EUR][1000 genomes]
rs3756721	0.85[CEU][hapmap]
rs3812053	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3812054	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3844184	0.85[CEU][hapmap]
rs3851469	0.85[CEU][hapmap]
rs41298308	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs41298312	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57256097	0.94[EUR][1000 genomes]
rs6595768	0.84[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6874752	0.83[EUR][1000 genomes]
rs6881894	0.85[CEU][hapmap]
rs6882034	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6892742	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72788576	0.83[ASN][1000 genomes]
rs72788578	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72788581	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72788599	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790405	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790408	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790410	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790411	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790412	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790417	0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790418	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790419	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790422	0.83[EUR][1000 genomes]
rs72790424	0.83[EUR][1000 genomes]
rs72790426	0.83[EUR][1000 genomes]
rs72790428	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790430	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790433	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790438	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72790444	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790451	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72790460	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72790468	0.98[EUR][1000 genomes]
rs72790470	0.98[EUR][1000 genomes]
rs72790475	0.98[EUR][1000 genomes]
rs72790483	0.96[EUR][1000 genomes]
rs72790485	0.96[EUR][1000 genomes]
rs72790487	0.90[EUR][1000 genomes]
rs73786108	0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7718640	0.96[EUR][1000 genomes]
rs7730171	0.93[EUR][1000 genomes]
rs7731380	0.98[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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126774600-126798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr5:126789800-126830400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:126793400-126799600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr5:126793400-126805200	Weak transcription	Fetal Muscle Leg	muscle
5	chr5:126795600-126799400	Weak transcription	HSMMtube	muscle
6	chr5:126797600-126805400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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