Variant report

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr5:75586755-75587995	ECC-1	luminal epithelium:	n/a	n/a
2	TCF12	chr5:75586936-75587708	ECC-1	luminal epithelium:	n/a	chr5:75587257-75587267
3	TEAD4	chr5:75586919-75587836	ECC-1	luminal epithelium:	n/a	chr5:75587330-75587339
4	MAX	chr5:75586915-75587846	ECC-1	luminal epithelium:	n/a	n/a
5	FOXM1	chr5:75586839-75587794	ECC-1	luminal epithelium:	n/a	n/a
6	EP300	chr5:75586877-75587868	ECC-1	luminal epithelium:	n/a	n/a
7	TCF12	chr5:75586875-75587823	ECC-1	luminal epithelium:	n/a	chr5:75587257-75587267

Variant related genes	Relation type
SV2C	TF binding region

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs11747835	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027368	chr5:74759999-75663712	Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv870415	chr5:75526088-75738412	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75585000-75587600	Enhancers	NHEK	skin
2	chr5:75585000-75593400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr5:75585000-75596000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr5:75585200-75587200	Weak transcription	Gastric	stomach
5	chr5:75585800-75587400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr5:75586000-75587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr5:75586000-75587400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr5:75586000-75587400	Enhancers	Liver	Liver
9	chr5:75586000-75587400	Enhancers	HMEC	breast
10	chr5:75586200-75587400	Enhancers	Fetal Lung	lung
11	chr5:75586200-75592400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr5:75586400-75587000	Enhancers	Primary hematopoietic stem cells	blood
13	chr5:75586400-75587800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr5:75586400-75588200	Enhancers	Pancreas	Pancrea
15	chr5:75586400-75590000	Enhancers	Stomach Mucosa	stomach
16	chr5:75586400-75591400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr5:75586600-75587600	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr5:75586800-75587000	Enhancers	Small Intestine	intestine
19	chr5:75586800-75587200	Enhancers	Fetal Thymus	thymus
20	chr5:75586800-75587400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr5:75586800-75588400	Enhancers	Rectal Mucosa Donor 31	rectum

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