Variant report

Variant	rs67000278
Chromosome Location	chr17:66587910-66587911
allele	C/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	chr17:66587816-66588099	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr17:66587818-66588081	H1-hESC	embryonic stem cell:	n/a	n/a
3	NRF1	chr17:66587675-66588058	K562	blood:	n/a	chr17:66587862-66587873
4	E2F6	chr17:66587736-66588135	H1-hESC	embryonic stem cell:	n/a	n/a
5	NRF1	chr17:66587707-66588041	H1-hESC	embryonic stem cell:	n/a	chr17:66587862-66587873
6	POLR2A	chr17:66587873-66588056	K562	blood:	n/a	n/a
7	E2F6	chr17:66587755-66588157	H1-hESC	embryonic stem cell:	n/a	n/a
8	HEY1	chr17:66587764-66588101	K562	blood:	n/a	n/a
9	E2F6	chr17:66587889-66588038	K562	blood:	n/a	n/a
10	TAF1	chr17:66587828-66588055	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr17:66587796-66588169	K562	blood:	n/a	chr17:66588155-66588164
12	MYC	chr17:66587795-66588169	K562	blood:	n/a	n/a
13	RCOR1	chr17:66587838-66588082	K562	blood:	n/a	n/a
14	POLR2A	chr17:66587736-66588047	Gliobla	brain:	n/a	n/a
15	CEBPB	chr17:66587784-66587984	K562	blood:	n/a	n/a
16	MAZ	chr17:66587838-66588025	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000267659	TF binding region

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2907392	0.81[ASN][1000 genomes]
rs2907393	0.83[ASN][1000 genomes]
rs2952303	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952304	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2952307	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2952310	0.83[ASN][1000 genomes]
rs4968906	0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833524	chr17:66524030-66705194	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66539200-66588000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr17:66572200-66591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr17:66576800-66588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr17:66577200-66592600	Weak transcription	Right Ventricle	heart
5	chr17:66578200-66594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:66581400-66590400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr17:66582000-66591800	Weak transcription	Left Ventricle	heart
8	chr17:66582200-66589000	Weak transcription	Fetal Heart	heart
9	chr17:66582200-66592600	Weak transcription	Gastric	stomach
10	chr17:66583000-66588800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr17:66583800-66589000	Weak transcription	Brain Angular Gyrus	brain
12	chr17:66584200-66588600	Genic enhancers	Liver	Liver
13	chr17:66584600-66588000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr17:66585400-66592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr17:66585400-66594200	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr17:66585600-66590000	Weak transcription	Fetal Thymus	thymus
17	chr17:66585600-66591400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr17:66585600-66591600	Weak transcription	Aorta	Aorta
19	chr17:66585600-66591600	Weak transcription	Lung	lung
20	chr17:66586600-66591200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr17:66586600-66591200	Weak transcription	Spleen	Spleen
22	chr17:66587000-66588000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr17:66587000-66588800	Enhancers	Placenta	Placenta
24	chr17:66587200-66591200	Weak transcription	HepG2	liver
25	chr17:66587400-66588200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr17:66587600-66588000	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr17:66587600-66588200	Flanking Active TSS	K562	blood
28	chr17:66587600-66589200	Enhancers	Osteobl	bone
29	chr17:66587800-66588000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr17:66587800-66588000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
31	chr17:66587800-66588400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr17:66587800-66588400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:66587800-66589600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr17:66587800-66590200	Enhancers	Fetal Stomach	stomach
35	chr17:66587800-66594000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr17:66587800-66594400	Enhancers	NHDF-Ad	bronchial

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