Variant report

Variant	rs4519000
Chromosome Location	chr10:55599848-55599849
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	10:55597627-55602376..10:55810019-55812112	H1-hESC	embryonic stem cell:	embryo
2	10:55597627-55602376..10:55882057-55892580	GM12878	blood:
3	10:55597627-55602376..10:55892580-55896204	H1-hESC	embryonic stem cell:	embryo
4	10:55597627-55602376..10:55871238-55872736	GM12878	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10509000	0.85[JPT][hapmap]
rs10740556	1.00[JPT][hapmap]
rs10763010	1.00[JPT][hapmap]
rs10763011	1.00[JPT][hapmap]
rs10825114	0.85[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs10825115	1.00[JPT][hapmap]
rs10825117	0.93[ASN][1000 genomes]
rs10825119	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10825120	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10825122	0.85[JPT][hapmap]
rs10825123	0.85[JPT][hapmap]
rs10825130	0.89[CHB][hapmap];0.86[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap]
rs10825132	0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10825133	0.95[ASN][1000 genomes]
rs10825134	0.90[MEX][hapmap]
rs11003868	0.83[CHB][hapmap]
rs11003871	0.84[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11003872	0.89[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11003873	0.85[JPT][hapmap]
rs11003874	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs11003876	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs11003878	0.85[JPT][hapmap]
rs11003879	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11003888	0.82[JPT][hapmap]
rs12258253	0.96[YRI][hapmap]
rs12263108	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12268247	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs16937793	0.85[JPT][hapmap]
rs16937794	0.85[JPT][hapmap]
rs16937797	0.85[JPT][hapmap]
rs16937801	0.85[JPT][hapmap]
rs1807888	0.88[ASN][1000 genomes]
rs1900415	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1900417	1.00[JPT][hapmap]
rs1900418	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs1900419	1.00[JPT][hapmap]
rs1900443	0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap]
rs1900455	0.86[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4310525	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs4417175	1.00[JPT][hapmap]
rs4417176	1.00[JPT][hapmap]
rs4540756	1.00[JPT][hapmap]
rs4935472	1.00[JPT][hapmap]
rs4935473	1.00[JPT][hapmap]
rs4935474	0.85[JPT][hapmap]
rs6481042	1.00[JPT][hapmap]
rs7074365	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7089209	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7358121	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7478212	0.89[TSI][hapmap]
rs766868	1.00[JPT][hapmap]
rs7901828	0.83[CEU][hapmap];0.90[GIH][hapmap]
rs7914433	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7916446	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1847684	chr10:55371601-55638740	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	esv1842975	chr10:55378668-55736655	ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv949692	chr10:55502542-55893206	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv895429	chr10:55564355-55736655	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55599600-55600000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr10:55599600-55600200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr10:55599600-55600200	Enhancers	Fetal Stomach	stomach
4	chr10:55599800-55600000	Enhancers	Fetal Lung	lung
5	chr10:55599800-55603600	Weak transcription	Brain Hippocampus Middle	brain

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