Variant report

Variant	rs12329983
Chromosome Location	chr22:33429320-33429321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1005664	1.00[CEU][hapmap]
rs10222253	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs11089597	1.00[CEU][hapmap]
rs11089602	1.00[CEU][hapmap]
rs1119511	1.00[CEU][hapmap]
rs1119512	1.00[CEU][hapmap]
rs11913122	1.00[EUR][1000 genomes]
rs11913247	1.00[EUR][1000 genomes]
rs11913962	1.00[EUR][1000 genomes]
rs11914009	1.00[EUR][1000 genomes]
rs12165603	1.00[EUR][1000 genomes]
rs12166563	1.00[EUR][1000 genomes]
rs12167310	1.00[CEU][hapmap]
rs12168142	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12373961	1.00[AMR][1000 genomes]
rs16991580	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs16991916	1.00[EUR][1000 genomes]
rs16991969	1.00[EUR][1000 genomes]
rs56095662	1.00[AMR][1000 genomes]
rs5754327	1.00[CEU][hapmap]
rs58499026	1.00[EUR][1000 genomes]
rs59142382	1.00[EUR][1000 genomes]
rs59845765	1.00[EUR][1000 genomes]
rs5998651	1.00[CEU][hapmap]
rs5998653	1.00[CEU][hapmap]
rs5998658	1.00[CEU][hapmap]
rs695224	0.83[AMR][1000 genomes]
rs7285055	1.00[CEU][hapmap]
rs7287344	1.00[EUR][1000 genomes]
rs7364251	1.00[AMR][1000 genomes]
rs7364286	1.00[AMR][1000 genomes]
rs73885004	1.00[EUR][1000 genomes]
rs743792	1.00[EUR][1000 genomes]
rs8140502	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs9619320	0.83[AMR][1000 genomes]
rs9619322	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs9619323	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs9621578	1.00[CEU][hapmap]
rs9621599	1.00[CEU][hapmap]
rs9621600	1.00[CEU][hapmap]
rs9621606	1.00[CEU][hapmap]
rs9621608	1.00[CEU][hapmap]
rs9621609	1.00[CEU][hapmap]
rs9621610	1.00[CEU][hapmap];0.83[AMR][1000 genomes]
rs9621613	0.85[AMR][1000 genomes]
rs9621614	1.00[AMR][1000 genomes]
rs9621615	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs9621619	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621621	1.00[EUR][1000 genomes]
rs9621622	1.00[CEU][hapmap]
rs9621627	1.00[CEU][hapmap]
rs9621628	1.00[EUR][1000 genomes]
rs9621640	1.00[EUR][1000 genomes]
rs9621642	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531568	chr22:33336868-33480272	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv531587	chr22:33346710-33809338	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv948523	chr22:33414164-34098417	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33414800-33430600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr22:33415000-33434200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:33417400-33430800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr22:33418400-33430600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr22:33422600-33431000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr22:33423000-33430600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr22:33424000-33430600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr22:33424600-33429600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:33424600-33430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr22:33424600-33430600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr22:33427600-33430800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr22:33428000-33430800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:33428000-33431000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr22:33428600-33430800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr22:33429000-33430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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