Variant report

Variant	rs9909265
Chromosome Location	chr17:67115077-67115078
allele	A/T
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	POLR2A	chr17:67113961-67115193	GM12891	blood:	n/a	n/a
2	CUX1	chr17:67114045-67115212	GM12878	blood:	n/a	n/a
3	EP300	chr17:67114021-67115166	GM12878	blood:	n/a	chr17:67114129-67114143

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:67114400..67115990-chr17:67171534..67173172,2	K562	blood:

Variant related genes	Relation type
ABCA6	TF binding region
ENSG00000154263	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10491178	0.81[EUR][1000 genomes]
rs11656320	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12103556	0.81[EUR][1000 genomes]
rs12600759	0.89[ASN][1000 genomes]
rs12601012	0.81[EUR][1000 genomes]
rs12602396	0.86[ASN][1000 genomes]
rs12602766	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12604047	0.83[EUR][1000 genomes]
rs12938420	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12945932	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12948410	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1468514	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16973562	0.86[ASN][1000 genomes]
rs16973656	0.81[EUR][1000 genomes]
rs1860120	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2233767	0.83[EUR][1000 genomes]
rs2233768	0.81[EUR][1000 genomes]
rs2286419	0.91[ASN][1000 genomes]
rs2302289	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2886048	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35991088	0.81[EUR][1000 genomes]
rs4968837	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4968844	0.81[EUR][1000 genomes]
rs4968853	0.81[EUR][1000 genomes]
rs4968996	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs55821831	0.81[EUR][1000 genomes]
rs58452744	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6502002	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6502005	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7209351	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7212506	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7212963	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73356149	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs736528	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7501583	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8065842	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8067965	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8080508	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8081118	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8082114	0.92[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9282553	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9282554	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9282555	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9889289	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9896308	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9904389	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[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	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	esv1850212	chr17:67081732-67117428	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	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

No data

Chromatin state (count:33 , 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	chr17:67079400-67117600	Weak transcription	Esophagus	oesophagus
3	chr17:67081400-67118600	Weak transcription	Right Ventricle	heart
4	chr17:67087000-67130400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr17:67091200-67131400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr17:67091600-67130000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr17:67092200-67137600	Weak transcription	Brain Anterior Caudate	brain
8	chr17:67095800-67131000	Weak transcription	Fetal Muscle Leg	muscle
9	chr17:67096200-67143400	Weak transcription	Psoas Muscle	Psoas
10	chr17:67096400-67134000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:67097000-67133800	Weak transcription	Colon Smooth Muscle	Colon
12	chr17:67099000-67131600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr17:67101200-67143400	Weak transcription	Pancreas	Pancrea
14	chr17:67106400-67131400	Weak transcription	Left Ventricle	heart
15	chr17:67108000-67117400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr17:67109600-67129200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr17:67110800-67115600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr17:67111200-67117200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:67114000-67115200	Flanking Active TSS	GM12878-XiMat	blood
20	chr17:67114200-67115800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr17:67114200-67115800	Enhancers	NHDF-Ad	bronchial
22	chr17:67114200-67117600	Genic enhancers	Liver	Liver
23	chr17:67114400-67115200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr17:67114400-67115800	Weak transcription	Fetal Heart	heart
25	chr17:67114400-67119800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr17:67114600-67115400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr17:67114600-67115600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:67114600-67116000	Strong transcription	Fetal Lung	lung
29	chr17:67114600-67117600	Weak transcription	Ovary	ovary
30	chr17:67114600-67162800	Weak transcription	Brain Angular Gyrus	brain
31	chr17:67114800-67117200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr17:67114800-67118400	Weak transcription	HUVEC	blood vessel
33	chr17:67114800-67122200	Weak transcription	Adipose Nuclei	Adipose

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