Variant report

Variant	rs8081118
Chromosome Location	chr17:67118617-67118618
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr17:67118277-67118669	HepG2	liver:	n/a	chr17:67118542-67118557
2	FOXA1	chr17:67118146-67118698	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:67118181-67118622	HepG2	liver:	n/a	n/a
4	MAFK	chr17:67118271-67118728	HepG2	liver:	n/a	chr17:67118542-67118557
5	MAFF	chr17:67118281-67118715	HepG2	liver:	n/a	chr17:67118403-67118421

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67112395..67115325-chr17:67117156..67120723,3	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154262	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10491178	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11077946	0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs11656320	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12103556	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12600759	0.97[ASN][1000 genomes]
rs12601012	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12602007	0.88[EUR][1000 genomes]
rs12602396	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12602766	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12602816	1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs12602962	0.88[EUR][1000 genomes]
rs12604047	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12938420	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12945932	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12948410	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1468514	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16973562	0.82[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs16973622	0.85[EUR][1000 genomes]
rs16973656	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16973672	0.85[ASN][1000 genomes]
rs16973722	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs16973774	0.91[CHB][hapmap];0.81[EUR][1000 genomes]
rs1860120	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1968099	0.85[EUR][1000 genomes]
rs2233767	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2233768	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286419	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2302289	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2886048	0.82[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];0.87[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35991088	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs36145749	0.88[EUR][1000 genomes]
rs3891333	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs41496448	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs4968786	0.85[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs4968787	0.85[EUR][1000 genomes]
rs4968837	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968844	1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4968853	0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4968996	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55821831	0.90[EUR][1000 genomes]
rs57736258	0.88[EUR][1000 genomes]
rs58452744	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58761646	0.85[EUR][1000 genomes]
rs6502001	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.80[YRI][hapmap]
rs6502002	0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6502005	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7209351	0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7212506	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7212963	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73356149	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs736528	0.89[ASW][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7501583	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7501929	0.85[EUR][1000 genomes]
rs758255	0.87[TSI][hapmap]
rs764178	1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8065842	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8067965	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068468	0.87[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes]
rs8080508	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8082114	0.82[ASW][hapmap];0.91[CHB][hapmap];0.88[JPT][hapmap];0.80[YRI][hapmap];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9282553	0.92[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282554	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9282555	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9889289	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9896308	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9904389	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9905622	0.85[EUR][1000 genomes]
rs9909265	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
4	nsv470598	chr17:67081830-67212595	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8081118	CNN3	trans	lymphoblastoid	seeQTL

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67077800-67137800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
6	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
7	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
8	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
10	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
12	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
13	chr17:67109600-67129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:67114400-67119800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
16	chr17:67114800-67122200	Weak transcription	Adipose Nuclei	Adipose
17	chr17:67115600-67134000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:67115800-67118800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr17:67115800-67121800	Weak transcription	NHDF-Ad	bronchial
20	chr17:67115800-67130600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:67117200-67119600	Strong transcription	Skeletal Muscle Male	skeletal muscle
22	chr17:67117200-67119800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr17:67117400-67119000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr17:67117400-67119000	Strong transcription	Fetal Lung	lung
25	chr17:67117800-67130400	Weak transcription	Ovary	ovary
26	chr17:67118000-67119200	Enhancers	HepG2	liver
27	chr17:67118200-67118800	Enhancers	Liver	Liver

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