Variant report

Variant	rs4803071
Chromosome Location	chr19:53731754-53731755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:53722523..53724411-chr19:53731343..53734094,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10401578	0.88[CHB][hapmap];0.83[CHD][hapmap];0.89[ASN][1000 genomes]
rs10404048	0.80[CHB][hapmap]
rs10425196	0.87[ASN][1000 genomes]
rs10775558	0.82[CHB][hapmap];0.83[CHD][hapmap]
rs10853858	0.81[CHD][hapmap]
rs10853859	0.82[CHB][hapmap]
rs11084227	0.88[CHB][hapmap];0.83[CHD][hapmap];0.86[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs11084228	0.98[ASN][1000 genomes]
rs1129002	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs11666631	0.89[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs12972588	0.89[ASN][1000 genomes]
rs12982260	0.98[ASN][1000 genomes]
rs12984188	0.94[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs12984473	0.94[CHB][hapmap];0.92[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs12985503	0.89[ASN][1000 genomes]
rs17272966	0.83[ASW][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs28411117	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2865241	0.91[ASN][1000 genomes]
rs28734122	0.86[ASN][1000 genomes]
rs2914371	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs2914372	1.00[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.94[ASN][1000 genomes]
rs2914376	0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2914377	0.98[ASN][1000 genomes]
rs2914378	0.93[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[ASN][1000 genomes]
rs2914381	0.80[CHB][hapmap]
rs2914383	0.88[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.81[TSI][hapmap];0.98[ASN][1000 genomes]
rs2914384	0.81[ASN][1000 genomes]
rs2965222	0.98[ASN][1000 genomes]
rs2965224	0.80[CHB][hapmap]
rs2965231	0.80[CHB][hapmap]
rs2965236	0.98[ASN][1000 genomes]
rs2965237	0.98[ASN][1000 genomes]
rs2965238	0.98[ASN][1000 genomes]
rs2965240	0.98[ASN][1000 genomes]
rs2965242	1.00[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap];0.96[ASN][1000 genomes]
rs2965243	0.86[ASN][1000 genomes]
rs2965244	0.87[ASN][1000 genomes]
rs3097248	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs3111319	0.98[ASN][1000 genomes]
rs36114232	0.87[ASN][1000 genomes]
rs4801965	0.81[CHB][hapmap]
rs4801970	0.82[CHB][hapmap]
rs4803069	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4803078	0.93[YRI][hapmap]
rs4803080	0.98[ASN][1000 genomes]
rs55779655	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs62117791	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71363315	0.83[ASN][1000 genomes]
rs7247982	0.80[CHB][hapmap]
rs8113436	0.98[ASN][1000 genomes]
rs9788	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065143	chr19:53507142-53853363	Bivalent/Poised TSS ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv544063	chr19:53507142-53853363	ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
3	nsv1058019	chr19:53507142-53904508	ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv544064	chr19:53507142-53904508	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv912342	chr19:53581151-54010759	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv1063630	chr19:53591444-54419183	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	282 gene(s)	inside rSNPs	diseases
7	nsv1055378	chr19:53603268-53951855	Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
8	nsv544065	chr19:53603268-53951855	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	esv2830362	chr19:53681132-53933147	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1064604	chr19:53730688-53751243	ZNF genes & repeats Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv978756	chr19:53731680-53733838	ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4803071	ZNF446	cis	cerebellum	SCAN
rs4803071	AURKC	cis	parietal	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:53727000-53731800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
2	chr19:53728200-53748800	ZNF genes & repeats	Liver	Liver
3	chr19:53729000-53732600	ZNF genes & repeats	Adipose Nuclei	Adipose

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