Variant report

Variant	rs301751
Chromosome Location	chr1:216352002-216352003
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17597445	1.00[CHB][hapmap]
rs17649639	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2926178	1.00[CHB][hapmap]
rs301743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301746	1.00[AFR][1000 genomes]
rs301748	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs301749	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs301753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs301755	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs301756	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs301757	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs301758	1.00[CHB][hapmap]
rs3106400	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs368107	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs371947	0.80[CEU][hapmap];0.85[AMR][1000 genomes]
rs386851	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs400358	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs403340	1.00[CHB][hapmap]
rs414373	1.00[CHB][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs419767	1.00[AFR][1000 genomes]
rs440416	1.00[AFR][1000 genomes]
rs446247	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs448588	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs449118	1.00[CHB][hapmap]
rs452747	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs453273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs471271	1.00[CHB][hapmap]
rs551895	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs594799	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs619629	1.00[AFR][1000 genomes]
rs619803	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs627143	0.86[EUR][1000 genomes]
rs637374	0.85[AMR][1000 genomes]
rs656949	1.00[CHB][hapmap]
rs658740	1.00[CHB][hapmap]
rs669825	1.00[AFR][1000 genomes]
rs676212	1.00[CEU][hapmap]
rs682319	1.00[CHB][hapmap]
rs687476	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7413858	1.00[CHB][hapmap]
rs9729724	1.00[CHB][hapmap]

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	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
2	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
3	nsv873176	chr1:216249570-216363137	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1006028	chr1:216268796-216432545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216347000-216356200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:216349000-216355600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr1:216350800-216352400	Enhancers	Muscle Satellite Cultured Cells	--
4	chr1:216351000-216352200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:216351400-216352200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr1:216351400-216356200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:216351400-216356400	Weak transcription	Fetal Stomach	stomach

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