Variant report

Variant	rs6998292
Chromosome Location	chr8:54136017-54136018
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10090337	0.89[ASN][1000 genomes]
rs10094852	0.89[ASN][1000 genomes]
rs10095237	0.89[ASN][1000 genomes]
rs10097082	0.89[ASN][1000 genomes]
rs10099942	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10104814	0.94[ASN][1000 genomes]
rs10105801	0.89[ASN][1000 genomes]
rs10109762	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10504152	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11984673	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988467	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11992022	0.89[ASN][1000 genomes]
rs11996091	0.96[ASN][1000 genomes]
rs1365091	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1365094	0.81[EUR][1000 genomes]
rs1425903	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1425905	0.81[EUR][1000 genomes]
rs16918835	0.89[ASN][1000 genomes]
rs16918853	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs16918857	0.89[ASN][1000 genomes]
rs16918884	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17356028	0.98[ASN][1000 genomes]
rs2114103	0.81[EUR][1000 genomes]
rs3802279	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3802280	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs3802281	0.82[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3802282	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55675556	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55738135	0.80[EUR][1000 genomes]
rs6473794	0.80[EUR][1000 genomes]
rs6473795	0.81[EUR][1000 genomes]
rs6990826	0.80[EUR][1000 genomes]
rs6994491	0.81[EUR][1000 genomes]
rs702764	0.82[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7816712	0.89[ASN][1000 genomes]
rs7817710	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7820807	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7824175	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7826149	0.81[EUR][1000 genomes]
rs7827062	0.81[EUR][1000 genomes]
rs7827334	0.81[EUR][1000 genomes]
rs7832417	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs7844958	0.81[EUR][1000 genomes]
rs9632842	0.81[EUR][1000 genomes]
rs963549	0.82[CHB][hapmap];1.00[JPT][hapmap];0.89[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	nsv1016224	chr8:53719941-54367534	Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530534	chr8:53787984-54367353	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3377304	chr8:53873441-54380875	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr8:54127600-54136400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:54131800-54136400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:54132000-54136400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:54132000-54141600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:54132000-54149400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:54135600-54137400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr8:54135600-54138000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:54135600-54138600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr8:54135800-54137000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr8:54135800-54137000	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr8:54135800-54137200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr8:54135800-54138000	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr8:54136000-54136800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr8:54136000-54137200	Enhancers	H9 Cell Line	embryonic stem cell
15	chr8:54136000-54137800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:54136000-54137800	Enhancers	HUES6 Cell Line	embryonic stem cell

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