Variant report

Variant	rs11585423
Chromosome Location	chr1:216248392-216248393
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11587260	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12119670	1.00[CEU][hapmap];0.80[YRI][hapmap];0.93[EUR][1000 genomes]
rs12562620	0.91[CEU][hapmap];0.80[EUR][1000 genomes]
rs12751218	0.87[CEU][hapmap]
rs12759474	0.82[CEU][hapmap]
rs12759921	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs1544299	0.95[CEU][hapmap];0.83[YRI][hapmap];0.93[EUR][1000 genomes]
rs1811900	0.82[CEU][hapmap]
rs2068721	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs2147477	0.95[CEU][hapmap];0.83[YRI][hapmap]
rs2199101	0.82[CEU][hapmap]
rs35963782	0.81[EUR][1000 genomes]
rs4308954	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4971264	0.82[CEU][hapmap]
rs9727182	0.82[CEU][hapmap]
rs9728510	0.82[CEU][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	nsv428599	chr1:216086224-216267211	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv873172	chr1:216144827-216281673	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216243600-216248600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:216244400-216250800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:216246200-216249400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr1:216246400-216249000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:216246600-216249000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:216247400-216249200	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:216247600-216248600	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:216247600-216249200	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:216247800-216249200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:216248000-216249600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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