Variant report

Variant	rs6664028
Chromosome Location	chr1:215970386-215970387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10495007	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10864209	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs11120638	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs11120643	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11120659	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11120660	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11120669	0.88[ASN][1000 genomes]
rs11120670	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11120675	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11120677	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12037735	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12126127	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs12126972	0.92[ASN][1000 genomes]
rs12130746	0.85[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap]
rs12136240	1.00[CHB][hapmap];0.93[JPT][hapmap];0.88[YRI][hapmap]
rs12136954	0.87[JPT][hapmap]
rs12733601	1.00[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs1934426	1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs1934428	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs34726633	0.90[ASN][1000 genomes]
rs4520392	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6691299	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7514073	1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7536020	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.94[ASN][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	nsv430324	chr1:215649163-216082605	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1006504	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv535288	chr1:215890460-216642124	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv949671	chr1:215942740-216120815	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv549192	chr1:215967857-216034753	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:215967600-215971000	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:215967600-215971400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:215968000-215971200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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