Variant report

Variant	rs58816092
Chromosome Location	chr1:57287392-57287393
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	SPI1	chr1:57287179-57287399	K562	blood:	n/a	n/a
2	CTCF	chr1:57287300-57287450	HEEpiC	esophagus:	n/a	n/a
3	KAP1	chr1:57286482-57287473	HEK293	kidney:	n/a	n/a
4	FOXA1	chr1:57286682-57287402	HepG2	liver:	n/a	chr1:57287285-57287300
5	FOXA1	chr1:57286903-57287448	HepG2	liver:	n/a	chr1:57287285-57287300
6	EP300	chr1:57286778-57287403	HepG2	liver:	n/a	chr1:57287352-57287359 chr1:57287286-57287296 chr1:57287304-57287318
7	SPI1	chr1:57287146-57287416	GM12891	blood:	n/a	n/a
8	FOXA2	chr1:57286706-57287424	HepG2	liver:	n/a	n/a
9	FOXA1	chr1:57286913-57287524	HepG2	liver:	n/a	chr1:57287285-57287300
10	FOXA1	chr1:57286968-57287469	HepG2	liver:	n/a	chr1:57287285-57287300
11	FOXA2	chr1:57287030-57287404	A549	lung:	n/a	n/a
12	KAP1	chr1:57286677-57287443	U2OS	brain:	n/a	n/a
13	FOXA2	chr1:57286922-57287847	HepG2	liver:	n/a	n/a
14	CTCF	chr1:57287380-57287530	HPF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56872736..56875086-chr1:57287317..57289202,2	MCF-7	breast:

Variant related genes	Relation type
C1orf168	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12138068	0.90[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1891415	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57893067	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57281800-57287600	Enhancers	Fetal Intestine Small	intestine
2	chr1:57283800-57287400	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr1:57285400-57289000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:57285400-57305400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:57286000-57287400	Enhancers	Right Atrium	heart
6	chr1:57286200-57287600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:57286200-57287600	Enhancers	Fetal Heart	heart
8	chr1:57286200-57287600	Enhancers	Stomach Mucosa	stomach
9	chr1:57286400-57287400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr1:57286600-57287400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:57286600-57287400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr1:57286600-57287400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr1:57286600-57287400	Enhancers	Pancreas	Pancrea
14	chr1:57286600-57287400	Flanking Active TSS	HepG2	liver
15	chr1:57286600-57287400	Enhancers	Osteobl	bone
16	chr1:57286600-57287600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:57286600-57287600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:57286600-57287600	Enhancers	Fetal Lung	lung
19	chr1:57287000-57287400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:57287200-57287400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr1:57287200-57287400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr1:57287200-57287400	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
23	chr1:57287200-57287400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
24	chr1:57287200-57288800	Enhancers	Pancreatic Islets	Pancreatic Islet
25	chr1:57287200-57289800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:57287200-57289800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:57287200-57290000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:57287200-57290200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:57287200-57291000	Weak transcription	NH-A	brain
30	chr1:57287200-57291600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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