Variant report

Variant	rs8046154
Chromosome Location	chr16:58807882-58807883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr16:58807629-58808245	HepG2	liver:	n/a	n/a
2	TEAD4	chr16:58807745-58808176	HepG2	liver:	n/a	n/a
3	FOXA1	chr16:58807786-58808143	HepG2	liver:	n/a	n/a
4	FOXA1	chr16:58807646-58808204	HepG2	liver:	n/a	n/a
5	SP1	chr16:58807716-58808107	HepG2	liver:	n/a	n/a
6	EP300	chr16:58807726-58808089	HepG2	liver:	n/a	n/a
7	FOXA1	chr16:58807766-58808240	HepG2	liver:	n/a	n/a
8	NFIC	chr16:58807693-58808221	HepG2	liver:	n/a	n/a
9	FOXA2	chr16:58807266-58808411	HepG2	liver:	n/a	n/a
10	HDAC2	chr16:58807809-58808062	HepG2	liver:	n/a	n/a
11	NR2F2	chr16:58807644-58808249	HepG2	liver:	n/a	n/a
12	RXRA	chr16:58807770-58808116	HepG2	liver:	n/a	n/a
13	FOXA1	chr16:58807766-58808063	A549	lung:	n/a	n/a
14	HDAC2	chr16:58807745-58808111	HepG2	liver:	n/a	n/a
15	FOXA2	chr16:58807825-58808121	A549	lung:	n/a	n/a
16	EP300	chr16:58807817-58808111	HepG2	liver:	n/a	n/a
17	ARID3A	chr16:58807562-58808192	HepG2	liver:	n/a	n/a
18	HNF4A	chr16:58807848-58808146	HepG2	liver:	n/a	n/a
19	CEBPB	chr16:58807843-58808104	HepG2	liver:	n/a	n/a
20	CEBPB	chr16:58807774-58808148	HepG2	liver:	n/a	n/a
21	HNF4A	chr16:58807815-58808046	HepG2	liver:	n/a	n/a
22	FOXA2	chr16:58807787-58808121	HepG2	liver:	n/a	n/a

No data

Variant related genes	Relation type
GEMIN8P2	TF binding region

Extended variants
information (count: 97 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs11076259	0.98[EUR][1000 genomes]
rs11076260	0.98[EUR][1000 genomes]
rs11076262	0.81[TSI][hapmap]
rs12325516	0.96[EUR][1000 genomes]
rs12709012	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12924243	0.85[EUR][1000 genomes]
rs1369933	0.98[EUR][1000 genomes]
rs1369934	0.98[EUR][1000 genomes]
rs1436427	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs149479	0.82[EUR][1000 genomes]
rs1595180	0.98[EUR][1000 genomes]
rs1595181	0.81[TSI][hapmap]
rs1616072	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1618602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1624301	0.98[EUR][1000 genomes]
rs1626006	0.98[EUR][1000 genomes]
rs1646260	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1646265	0.98[EUR][1000 genomes]
rs1646268	0.95[EUR][1000 genomes]
rs1646269	0.95[EUR][1000 genomes]
rs1646274	0.96[EUR][1000 genomes]
rs1646275	0.95[EUR][1000 genomes]
rs1646278	0.98[EUR][1000 genomes]
rs1646279	0.98[EUR][1000 genomes]
rs1646280	0.96[EUR][1000 genomes]
rs1646281	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1646282	0.95[EUR][1000 genomes]
rs1646284	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1646285	0.97[EUR][1000 genomes]
rs1646286	0.98[EUR][1000 genomes]
rs1646287	0.98[EUR][1000 genomes]
rs1646288	0.98[EUR][1000 genomes]
rs1657161	0.95[EUR][1000 genomes]
rs1657163	0.95[EUR][1000 genomes]
rs1657164	0.96[EUR][1000 genomes]
rs1657166	0.89[EUR][1000 genomes]
rs1657167	0.96[EUR][1000 genomes]
rs1657169	0.93[EUR][1000 genomes]
rs1657171	0.92[EUR][1000 genomes]
rs1657176	0.90[EUR][1000 genomes]
rs1657177	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1657178	1.00[CEU][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs166290	0.90[EUR][1000 genomes]
rs185397	0.81[MEX][hapmap]
rs1865836	1.00[CEU][hapmap]
rs191783	0.98[EUR][1000 genomes]
rs2406087	0.83[EUR][1000 genomes]
rs2432621	0.95[EUR][1000 genomes]
rs2432622	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2575374	0.95[EUR][1000 genomes]
rs257616	0.81[MEX][hapmap]
rs257621	0.84[JPT][hapmap];0.81[MEX][hapmap]
rs257624	0.98[EUR][1000 genomes]
rs257627	0.98[EUR][1000 genomes]
rs257628	0.98[EUR][1000 genomes]
rs257629	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30834	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs30837	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs30838	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs30840	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs30841	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs30842	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[GIH][hapmap];0.85[JPT][hapmap];0.81[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs40575	0.80[AMR][1000 genomes]
rs4238801	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4315316	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4427787	0.85[EUR][1000 genomes]
rs4499224	1.00[CEU][hapmap]
rs4538000	0.95[EUR][1000 genomes]
rs4575523	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4784977	0.95[EUR][1000 genomes]
rs4784982	0.82[EUR][1000 genomes]
rs6499974	0.95[CEU][hapmap]
rs6499976	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs6499984	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6499985	0.81[EUR][1000 genomes]
rs6993	0.88[CEU][hapmap];0.92[TSI][hapmap]
rs7184377	0.83[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs7188608	0.89[EUR][1000 genomes]
rs7194961	0.81[EUR][1000 genomes]
rs727484	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs72792430	0.95[EUR][1000 genomes]
rs8044542	0.99[EUR][1000 genomes]
rs8045466	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8049462	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8051078	0.98[EUR][1000 genomes]
rs8054414	0.96[EUR][1000 genomes]
rs8060717	0.98[EUR][1000 genomes]
rs8060721	0.98[EUR][1000 genomes]
rs839418	0.82[EUR][1000 genomes]
rs899375	0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9302706	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs9937713	1.00[CEU][hapmap];0.98[EUR][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	esv2758427	chr16:58579005-58876037	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2758650	chr16:58579005-58876037	ZNF genes & repeats Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1065296	chr16:58738198-58837859	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	n/a
4	nsv1065269	chr16:58743487-58972224	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv520998	chr16:58807542-58834219	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs8046154	GOT2	cis	cerebellum	SCAN
rs8046154	GOT2	cis	Thyroid	GTEx
rs8046154	CSNK2A2	cis	cerebellum	SCAN
rs8046154	GOT2	cis	Skin Sun Exposed Lower leg	GTEx
rs8046154	GOT2	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:58806600-58808400	Enhancers	Liver	Liver
2	chr16:58807600-58808600	Enhancers	HepG2	liver
3	chr16:58807800-58808200	Enhancers	A549	lung

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