Variant report

Variant	rs4014195
Chromosome Location	chr11:65506822-65506823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65479344..65482613-chr11:65506130..65509163,3	K562	blood:

Variant related genes	Relation type
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs1073602	0.83[ASN][1000 genomes]
rs1074155	0.88[CEU][hapmap];0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs1074156	0.88[CEU][hapmap];0.88[CHB][hapmap];0.82[GIH][hapmap];0.83[ASN][1000 genomes]
rs10791822	0.83[ASN][1000 genomes]
rs10896025	0.82[ASN][1000 genomes]
rs10896026	0.82[ASN][1000 genomes]
rs10896028	0.83[ASN][1000 genomes]
rs10896032	0.87[CEU][hapmap];0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs10896033	0.85[ASN][1000 genomes]
rs10896035	0.85[ASN][1000 genomes]
rs10896037	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10896038	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227251	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11227254	0.83[ASN][1000 genomes]
rs11227279	0.82[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227281	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227299	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11532071	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537193	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11568300	0.83[ASN][1000 genomes]
rs11600918	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11601509	0.83[ASN][1000 genomes]
rs11604451	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604462	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11604568	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606947	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12225620	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12289836	0.88[CEU][hapmap];0.88[CHB][hapmap];0.81[CHD][hapmap];0.83[GIH][hapmap];0.83[ASN][1000 genomes]
rs12802391	0.83[ASN][1000 genomes]
rs1466462	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs2236682	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28464085	0.84[ASN][1000 genomes]
rs4014192	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4645927	0.88[CEU][hapmap];0.82[CHB][hapmap];0.85[CHD][hapmap];0.84[TSI][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4645933	0.87[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.82[TSI][hapmap];0.83[ASN][1000 genomes]
rs479844	0.82[CHD][hapmap]
rs4930312	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930313	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930319	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56686587	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60626743	0.83[ASN][1000 genomes]
rs61893835	0.84[ASN][1000 genomes]
rs61895665	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6591185	0.83[ASN][1000 genomes]
rs6591187	0.85[ASN][1000 genomes]
rs6591188	0.88[CEU][hapmap];0.88[CHB][hapmap];0.85[CHD][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]
rs7110576	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7115734	0.87[CEU][hapmap];0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs7120713	0.84[ASN][1000 genomes]
rs7123489	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs746429	0.81[CHB][hapmap]
rs7924510	0.83[ASN][1000 genomes]
rs7930301	0.84[ASN][1000 genomes]
rs7947604	0.88[CEU][hapmap]
rs7952133	0.85[ASN][1000 genomes]
rs948493	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs948494	0.96[CEU][hapmap];0.94[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9666878	0.88[CEU][hapmap];0.88[CHB][hapmap];0.84[CHD][hapmap];0.84[TSI][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
2	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
3	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
4	nsv897758	chr11:65490756-65564035	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv983035	chr11:65494712-65529501	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Chronic kidney disease	20383146	GWAS catalog

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4014195	DKFZp761E198	cis	Lymphoblastoid	GTEx
rs4014195	DKFZp761E198	cis	multi-tissue	Pritchard
rs4014195	DKFZp761E198	cis	lymphoblastoid	seeQTL

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65495400-65511400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr11:65506800-65507800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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