Variant report

Variant	rs4975166
Chromosome Location	chr4:80127066-80127067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:80126283..80129035-chr4:80131457..80134013,2	K562	blood:
2	chr4:80126178..80129035-chr4:80131457..80134013,3	K562	blood:
3	chr4:80114833..80117563-chr4:80125822..80128575,2	K562	blood:

Variant related genes	Relation type
ENSG00000249307	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs10013555	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10032360	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10032363	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1026394	0.88[ASN][1000 genomes]
rs1080690	0.82[ASN][1000 genomes]
rs11098588	0.95[ASN][1000 genomes]
rs11098595	0.93[ASN][1000 genomes]
rs11098603	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098609	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs11732616	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11735553	0.93[ASN][1000 genomes]
rs12502459	0.88[ASN][1000 genomes]
rs12504676	0.93[ASN][1000 genomes]
rs12643994	0.91[ASN][1000 genomes]
rs12644018	0.88[ASN][1000 genomes]
rs12648205	0.93[ASN][1000 genomes]
rs12650537	0.82[ASN][1000 genomes]
rs13143413	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13145326	0.93[ASN][1000 genomes]
rs1385055	0.89[ASN][1000 genomes]
rs1455313	0.91[ASN][1000 genomes]
rs17003689	0.81[ASN][1000 genomes]
rs17003690	0.81[ASN][1000 genomes]
rs1840480	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1955232	0.82[ASN][1000 genomes]
rs28528138	0.82[ASN][1000 genomes]
rs4246718	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[ASN][1000 genomes]
rs4302482	0.89[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs4385093	0.80[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4386626	0.93[ASN][1000 genomes]
rs4425403	0.93[ASN][1000 genomes]
rs4470657	0.93[ASN][1000 genomes]
rs4502706	0.93[ASN][1000 genomes]
rs4519821	0.93[ASN][1000 genomes]
rs4527507	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4530664	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap]
rs4535355	0.93[ASN][1000 genomes]
rs4535356	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4571359	0.93[ASN][1000 genomes]
rs4571360	0.93[ASN][1000 genomes]
rs4639097	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4975079	0.93[ASN][1000 genomes]
rs4975080	0.89[ASN][1000 genomes]
rs4975171	0.93[ASN][1000 genomes]
rs4975172	0.93[ASN][1000 genomes]
rs4975173	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4988619	0.93[ASN][1000 genomes]
rs56008448	0.82[ASN][1000 genomes]
rs56205707	0.87[ASN][1000 genomes]
rs58479998	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534217	0.93[ASN][1000 genomes]
rs6534218	0.93[ASN][1000 genomes]
rs6534222	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6534253	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6810580	0.93[ASN][1000 genomes]
rs6826553	0.82[ASN][1000 genomes]
rs6826564	0.93[ASN][1000 genomes]
rs6827253	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs6832917	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6837864	0.93[ASN][1000 genomes]
rs6853034	0.93[ASN][1000 genomes]
rs6855921	0.93[ASN][1000 genomes]
rs72870807	0.87[ASN][1000 genomes]
rs72870815	0.87[ASN][1000 genomes]
rs72870819	0.87[ASN][1000 genomes]
rs7656444	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7659766	1.00[CHB][hapmap];0.90[JPT][hapmap];0.93[ASN][1000 genomes]
rs7667438	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7673022	0.93[ASN][1000 genomes]
rs7676343	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7679438	0.93[ASN][1000 genomes]
rs7694880	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7695330	0.93[ASN][1000 genomes]
rs9307489	0.93[ASN][1000 genomes]
rs9715410	0.93[ASN][1000 genomes]
rs9993157	0.81[CHB][hapmap];0.93[CHD][hapmap];0.90[JPT][hapmap];0.82[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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1014428	chr4:80089712-80132813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80127000-80127200	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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