Variant report

Variant	rs8067578
Chromosome Location	chr17:67047428-67047429
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	MAX	chr17:67047146-67047444	NB4	blood:	n/a	n/a
2	NFIC	chr17:67047041-67047667	HepG2	liver:	n/a	n/a
3	FOXA1	chr17:67047056-67047617	HepG2	liver:	n/a	n/a
4	TEAD4	chr17:67047090-67047646	HepG2	liver:	n/a	n/a
5	CEBPB	chr17:67047237-67047443	H1-hESC	embryonic stem cell:	n/a	chr17:67047335-67047344 chr17:67047333-67047344 chr17:67047335-67047344 chr17:67047335-67047344 chr17:67047334-67047345 chr17:67047335-67047344
6	CEBPB	chr17:67047175-67047519	A549	lung:	n/a	chr17:67047335-67047344 chr17:67047333-67047344 chr17:67047335-67047344 chr17:67047335-67047344 chr17:67047334-67047345 chr17:67047335-67047344
7	CEBPB	chr17:67047173-67047507	IMR90	lung:	n/a	chr17:67047335-67047344 chr17:67047333-67047344 chr17:67047335-67047344 chr17:67047335-67047344 chr17:67047334-67047345 chr17:67047335-67047344
8	MAX	chr17:67046958-67047610	HepG2	liver:	n/a	n/a
9	EP300	chr17:67047035-67047557	HepG2	liver:	n/a	chr17:67047331-67047345
10	CEBPB	chr17:67047177-67047518	K562	blood:	n/a	chr17:67047335-67047344 chr17:67047333-67047344 chr17:67047335-67047344 chr17:67047335-67047344 chr17:67047334-67047345 chr17:67047335-67047344
11	CEBPD	chr17:67047200-67047455	HepG2	liver:	n/a	chr17:67047335-67047344 chr17:67047333-67047344
12	CEBPB	chr17:67047146-67047537	HepG2	liver:	n/a	chr17:67047335-67047344 chr17:67047333-67047344 chr17:67047335-67047344 chr17:67047335-67047344 chr17:67047334-67047345 chr17:67047335-67047344
13	FOXA1	chr17:67047052-67047583	HepG2	liver:	n/a	n/a
14	TCF7L2	chr17:67047183-67047495	HepG2	liver:	n/a	n/a
15	MYBL2	chr17:67047030-67047608	HepG2	liver:	n/a	n/a
16	EP300	chr17:67047079-67047586	HepG2	liver:	n/a	chr17:67047331-67047345
17	FOXA2	chr17:67047111-67047472	HepG2	liver:	n/a	n/a
18	SP1	chr17:67047037-67047515	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ABCA9	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10512523	0.95[EUR][1000 genomes]
rs1076401	0.98[ASN][1000 genomes]
rs11657541	0.97[ASN][1000 genomes]
rs11659114	1.00[ASN][1000 genomes]
rs11868097	0.86[EUR][1000 genomes]
rs11871944	0.99[ASN][1000 genomes]
rs12325889	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2079808	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4968993	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62082714	0.99[ASN][1000 genomes]
rs71357712	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7217543	0.98[ASN][1000 genomes]
rs8066691	0.88[EUR][1000 genomes]
rs8070285	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9789039	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9789083	0.80[EUR][1000 genomes]
rs9902602	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:67039800-67051800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:67040400-67047600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr17:67040800-67055600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr17:67041400-67072600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:67044000-67050200	Enhancers	HepG2	liver
6	chr17:67044200-67047600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr17:67044200-67047600	Weak transcription	Colon Smooth Muscle	Colon
8	chr17:67044200-67047600	Weak transcription	NHLF	lung
9	chr17:67044200-67053400	Weak transcription	Left Ventricle	heart
10	chr17:67044400-67047600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr17:67044400-67051000	Weak transcription	Liver	Liver
12	chr17:67044400-67057200	Weak transcription	Fetal Lung	lung
13	chr17:67044600-67049000	Weak transcription	Right Atrium	heart
14	chr17:67045200-67048000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr17:67046000-67049200	Weak transcription	K562	blood
16	chr17:67046200-67057000	Weak transcription	HUVEC	blood vessel
17	chr17:67046400-67047800	Enhancers	Osteobl	bone
18	chr17:67046400-67048000	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr17:67046600-67052800	Weak transcription	Ovary	ovary
20	chr17:67047000-67047600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr17:67047000-67047800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr17:67047000-67048000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:67047000-67048200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr17:67047000-67050000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr17:67047200-67047600	Enhancers	Adipose Nuclei	Adipose
26	chr17:67047200-67047800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr17:67047200-67047800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:67047200-67047800	Flanking Active TSS	NHDF-Ad	bronchial
29	chr17:67047200-67048000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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