Variant report

Variant	rs10021714
Chromosome Location	chr4:576267-576268
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	chr4:517866..521551-chr4:574619..578020,3	K562	blood:

Variant related genes	Relation type
ENSG00000174227	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10023472	0.84[CHD][hapmap]
rs10027866	0.84[CHD][hapmap]
rs10029928	0.87[ASW][hapmap];0.88[CHD][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap]
rs10031968	0.82[CHB][hapmap]
rs10033239	0.92[ASN][1000 genomes]
rs10213007	0.85[MEX][hapmap]
rs11248029	0.80[ASN][1000 genomes]
rs1127410	0.85[MEX][hapmap]
rs13146809	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13149933	0.85[MEX][hapmap]
rs28374488	0.80[CHD][hapmap]
rs28403281	0.80[ASN][1000 genomes]
rs28438498	0.84[CHD][hapmap]
rs28502612	0.85[ASN][1000 genomes]
rs28520978	0.83[ASN][1000 genomes]
rs28711586	0.91[ASN][1000 genomes]
rs28714509	0.80[ASN][1000 genomes]
rs28769407	0.80[ASN][1000 genomes]
rs28826275	0.80[ASN][1000 genomes]
rs34307246	0.80[ASN][1000 genomes]
rs4075653	0.87[ASW][hapmap];0.88[CHD][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap]
rs4324510	0.86[CHB][hapmap]
rs67376373	0.94[ASN][1000 genomes]
rs6822767	0.85[MEX][hapmap]
rs72611198	0.80[ASN][1000 genomes]
rs72611199	0.80[ASN][1000 genomes]
rs72611200	0.80[ASN][1000 genomes]
rs72611201	0.80[ASN][1000 genomes]
rs72611202	0.80[ASN][1000 genomes]
rs72613103	0.80[ASN][1000 genomes]
rs7661376	0.87[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs9884240	0.87[ASW][hapmap];0.82[CHB][hapmap];0.92[CHD][hapmap];0.82[JPT][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs9997286	0.87[ASW][hapmap];0.88[CHD][hapmap];0.85[MKK][hapmap];0.81[TSI][hapmap]
rs9998967	0.87[ASW][hapmap];0.88[CHD][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv532703	chr4:72447-614414	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv532704	chr4:85040-628550	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
8	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
9	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10021714	ZNF141	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:575600-596400	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr4:576200-576600	Enhancers	HepG2	liver

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