Variant report

Variant	rs2068721
Chromosome Location	chr1:216252742-216252743
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10495015	0.89[CHB][hapmap]
rs10779664	0.89[CHB][hapmap]
rs11585423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs12042718	0.80[ASN][1000 genomes]
rs12119670	1.00[CEU][hapmap];0.89[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12562620	0.91[CEU][hapmap];0.86[JPT][hapmap];0.84[EUR][1000 genomes]
rs12751218	0.87[CEU][hapmap]
rs12759474	0.81[CEU][hapmap]
rs12759921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1544298	0.89[CHB][hapmap]
rs1544299	0.95[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1811900	0.81[CEU][hapmap]
rs2147477	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2199101	0.81[CEU][hapmap]
rs35963782	0.84[EUR][1000 genomes]
rs4308954	0.92[EUR][1000 genomes]
rs4971264	0.81[CEU][hapmap]
rs9727182	0.81[CEU][hapmap]
rs9728510	0.81[CEU][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	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
5	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216249000-216260200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:216249200-216252800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr1:216249200-216257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr1:216249400-216252800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr1:216250000-216252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:216252000-216256800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:216252400-216253200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:216252600-216252800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr1:216252600-216253000	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr1:216252600-216253000	Enhancers	iPS-15b Cell Line	embryonic stem cell

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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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