Variant report

Variant	rs5998701
Chromosome Location	chr22:33429659-33429660
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10483168	1.00[JPT][hapmap]
rs11089599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11703017	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703516	1.00[JPT][hapmap]
rs11703670	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11703699	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11704349	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11704652	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12158631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs12159195	0.86[EUR][1000 genomes]
rs12160502	0.81[EUR][1000 genomes]
rs133928	1.00[CHB][hapmap]
rs137543	1.00[CHB][hapmap]
rs137559	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs137561	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17779789	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2042793	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2042794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2081727	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs25112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5994652	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5994654	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs5998677	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998679	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998681	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998685	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998689	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs5998693	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs5998694	0.82[EUR][1000 genomes]
rs5998697	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs73162064	0.82[EUR][1000 genomes]
rs73162089	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162090	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73162099	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][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	chr22:33424600-33430600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:33424600-33430600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:33427600-33430800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:33428000-33430800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr22:33428000-33431000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr22:33428600-33430800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr22:33429000-33430800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:33429600-33430000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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