Variant report

Variant	rs12938644
Chromosome Location	chr17:66585476-66585477
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	chr17:66585335-66585654	HepG2	liver:	n/a	chr17:66585490-66585505
2	MAFK	chr17:66585372-66585601	HepG2	liver:	n/a	chr17:66585490-66585505
3	MAFK	chr17:66585452-66585562	Hela-S3	cervix:	n/a	chr17:66585490-66585505
4	MAFF	chr17:66585361-66585625	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:66583779..66585724-chr17:66586654..66588181,2	MCF-7	breast:
2	chr17:66585160..66586935-chr17:66601716..66603246,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267659	TF binding region
ENSG00000267659	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11649965	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11655376	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11655628	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12938535	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12947816	0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16973066	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3826431	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67810719	0.87[ASN][1000 genomes]
rs68007754	0.84[EUR][1000 genomes];0.93[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:32 , 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	chr17:66551800-66587800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr17:66572200-66591800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr17:66576800-66588000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr17:66577200-66592600	Weak transcription	Right Ventricle	heart
6	chr17:66578200-66594000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr17:66581400-66590400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr17:66582000-66587800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr17:66582000-66591800	Weak transcription	Left Ventricle	heart
10	chr17:66582200-66586200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:66582200-66589000	Weak transcription	Fetal Heart	heart
12	chr17:66582200-66592600	Weak transcription	Gastric	stomach
13	chr17:66583000-66585800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
14	chr17:66583000-66588800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:66583800-66589000	Weak transcription	Brain Angular Gyrus	brain
16	chr17:66584200-66586400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
17	chr17:66584200-66588600	Genic enhancers	Liver	Liver
18	chr17:66584400-66585600	ZNF genes & repeats	Placenta	Placenta
19	chr17:66584400-66585600	ZNF genes & repeats	Osteobl	bone
20	chr17:66584400-66586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:66584400-66587800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr17:66584600-66585600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:66584600-66585600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:66584600-66585600	ZNF genes & repeats	Aorta	Aorta
25	chr17:66584600-66585600	Enhancers	Fetal Thymus	thymus
26	chr17:66584600-66585800	ZNF genes & repeats	HepG2	liver
27	chr17:66584600-66588000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:66585000-66585600	Strong transcription	NHDF-Ad	bronchial
29	chr17:66585200-66585600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
30	chr17:66585200-66585600	ZNF genes & repeats	Lung	lung
31	chr17:66585400-66592800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr17:66585400-66594200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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