Variant report

Variant	rs4649909
Chromosome Location	chr1:70539366-70539367
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:70537552..70539411-chr1:70545771..70549953,3	K562	blood:
2	chr1:70531477..70533272-chr1:70537582..70540486,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1009127	1.00[EUR][1000 genomes]
rs11801993	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12062097	1.00[EUR][1000 genomes]
rs17131146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17131165	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131167	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131169	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131171	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131181	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131206	1.00[EUR][1000 genomes]
rs17131210	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17131224	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs2421317	1.00[CEU][hapmap]
rs28570245	1.00[ASN][1000 genomes]
rs2860095	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4649908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4649912	1.00[GIH][hapmap]
rs4650021	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650023	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650024	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650025	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57455508	1.00[ASN][1000 genomes]
rs58471111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58972495	1.00[EUR][1000 genomes]
rs602495	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs60600482	1.00[ASN][1000 genomes]
rs61128607	1.00[EUR][1000 genomes]
rs725794	1.00[ASW][hapmap]

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	nsv531879	chr1:70386455-70644617	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv461795	chr1:70475794-70551339	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv546453	chr1:70475794-70551339	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv461806	chr1:70494216-70566981	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv546454	chr1:70494216-70566981	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70505000-70549400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:70527600-70549200	Weak transcription	Fetal Brain Male	brain
3	chr1:70535000-70541800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:70536600-70539400	Enhancers	Muscle Satellite Cultured Cells	--
5	chr1:70536600-70541000	Enhancers	Fetal Lung	lung
6	chr1:70536800-70554000	Weak transcription	Fetal Brain Female	brain
7	chr1:70537200-70555800	Weak transcription	Brain Anterior Caudate	brain
8	chr1:70537600-70541400	Weak transcription	Fetal Heart	heart
9	chr1:70538200-70539600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:70538400-70550000	Weak transcription	Brain Angular Gyrus	brain
11	chr1:70538600-70541800	Weak transcription	Brain Germinal Matrix	brain
12	chr1:70538800-70555800	Weak transcription	NHDF-Ad	bronchial

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