Variant report

Variant	rs12142012
Chromosome Location	chr1:216268923-216268924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10864232	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12117648	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12123638	0.85[CEU][hapmap]
rs12142678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs301730	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs301731	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs301733	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs442028	0.82[CEU][hapmap]
rs4971263	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
4	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
5	nsv1007720	chr1:216268796-216306127	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv999211	chr1:216268796-216329336	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:216267000-216269800	Enhancers	ES-I3 Cell Line	embryonic stem cell
2	chr1:216267200-216269400	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr1:216268000-216269600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr1:216268000-216269600	Enhancers	HUES6 Cell Line	embryonic stem cell
5	chr1:216268200-216269600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
6	chr1:216268200-216269600	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr1:216268200-216269600	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr1:216268400-216269200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:216268400-216269200	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr1:216268400-216269800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:216268800-216269200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr1:216268800-216269200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:216268800-216269200	Enhancers	H9 Cell Line	embryonic stem cell
14	chr1:216268800-216269200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:216268800-216269400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:216268800-216269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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