Variant report

Variant	rs186938694
Chromosome Location	chr5:74535246-74535247
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	E2F6	chr5:74535113-74535921	H1-hESC	embryonic stem cell:	n/a	chr5:74535463-74535475 chr5:74535467-74535474 chr5:74535463-74535471 chr5:74535463-74535470 chr5:74535467-74535474 chr5:74535464-74535478 chr5:74535467-74535474 chr5:74535462-74535473 chr5:74535463-74535471 chr5:74535462-74535472 chr5:74535464-74535479 chr5:74535463-74535474 chr5:74535460-74535477 chr5:74535466-74535475
2	MAFK	chr5:74535133-74535855	H1-hESC	embryonic stem cell:	n/a	chr5:74535274-74535289 chr5:74535447-74535461 chr5:74535718-74535728
3	TEAD4	chr5:74535043-74536091	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr5:74535020-74535920	ECC-1	luminal epithelium:	n/a	chr5:74535488-74535497
5	POLR2A	chr5:74535242-74535318	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAFK	chr5:74535131-74535392	HepG2	liver:	n/a	chr5:74535274-74535289
7	MAFK	chr5:74535115-74535410	HepG2	liver:	n/a	chr5:74535274-74535289
8	MAFK	chr5:74535209-74535409	K562	blood:	n/a	chr5:74535274-74535289
9	MAFK	chr5:74535134-74535306	IMR90	lung:	n/a	chr5:74535274-74535289

Variant related genes	Relation type
ANKRD31	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016610	chr5:74403611-74627654	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	esv2758000	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2759350	chr5:74433760-74611714	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv882190	chr5:74463185-74554826	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv882191	chr5:74478078-74554826	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv3445432	chr5:74533996-74535994	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74533400-74535400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr5:74533400-74535400	Weak transcription	A549	lung
3	chr5:74533400-74537400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr5:74533800-74537800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:74534000-74536000	Weak transcription	Esophagus	oesophagus
6	chr5:74534200-74535600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr5:74534200-74536200	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr5:74534400-74535400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr5:74534400-74535400	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr5:74534400-74535400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr5:74534400-74535800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr5:74534400-74536400	Enhancers	HMEC	breast
13	chr5:74535000-74535400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr5:74535000-74535400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:74535000-74535600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:74535000-74535600	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr5:74535000-74536000	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr5:74535000-74536200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:74535000-74536200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:74535000-74536400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr5:74535000-74536400	Enhancers	Placenta	Placenta
22	chr5:74535000-74536400	Enhancers	NHEK	skin
23	chr5:74535000-74538000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:74535000-74540200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr5:74535200-74535400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:74535200-74535400	Enhancers	Osteobl	bone
27	chr5:74535200-74535600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
28	chr5:74535200-74535800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr5:74535200-74535800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr5:74535200-74535800	Enhancers	NH-A	brain
31	chr5:74535200-74536200	Enhancers	Pancreas	Pancrea

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