Variant report

Variant	rs2457825
Chromosome Location	chr1:62676795-62676796
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr1:62676678-62676995	MCF10A-Er-Src	breast:	n/a	n/a
2	CBX3	chr1:62676563-62677120	HCT-116	colon:	n/a	n/a
3	CBX3	chr1:62676655-62676997	K562	blood:	n/a	n/a
4	KAP1	chr1:62676417-62677145	HEK293	kidney:	n/a	n/a
5	KAP1	chr1:62676518-62677037	U2OS	brain:	n/a	n/a
6	SETDB1	chr1:62676211-62677198	U2OS	brain:	n/a	n/a
7	ATF2	chr1:62675363-62677428	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr1:62675567-62679535	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr1:62675402-62677410	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD1	chr1:62676648-62676934	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr1:62676423-62677437	H1-hESC	embryonic stem cell:	n/a	n/a
12	ATF2	chr1:62675552-62677433	H1-hESC	embryonic stem cell:	n/a	n/a
13	GTF2F1	chr1:62675517-62679496	H1-hESC	embryonic stem cell:	n/a	n/a
14	TRIM28	chr1:62676711-62676923	K562	blood:	n/a	n/a
15	STAT3	chr1:62676757-62676879	MCF10A-Er-Src	breast:	n/a	n/a
16	TRIM28	chr1:62676612-62677032	K562	blood:	n/a	n/a
17	CBX3	chr1:62676641-62676969	K562	blood:	n/a	n/a
18	KAP1	chr1:62676381-62677044	K562	blood:	n/a	n/a
19	SMC3	chr1:62676762-62676875	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr1:62671110-62680443	H1-hESC	embryonic stem cell:	n/a	n/a
21	TCF12	chr1:62676527-62677045	A549	lung:	n/a	n/a
22	JUN	chr1:62676743-62676913	K562	blood:	n/a	n/a
23	ZNF143	chr1:62676721-62677000	Hela-S3	cervix:	n/a	n/a
24	TAF7	chr1:62675465-62677366	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr1:62672294-62680406	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF143	chr1:62676689-62676948	K562	blood:	n/a	n/a
27	POLR2A	chr1:62676763-62676928	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr1:62676446-62677404	H1-hESC	embryonic stem cell:	n/a	n/a
29	BACH1	chr1:62676638-62677265	H1-hESC	embryonic stem cell:	n/a	n/a
30	USF2	chr1:62675641-62677196	H1-hESC	embryonic stem cell:	n/a	n/a
31	ZNF143	chr1:62676749-62676949	GM12878	blood:	n/a	n/a
32	SP4	chr1:62676294-62677409	H1-hESC	embryonic stem cell:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000237227	TF binding region
ENSG00000200174	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2765264	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv870842	chr1:62644118-62679202	Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62664800-62677800	Weak transcription	Placenta	Placenta
2	chr1:62666000-62695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:62668400-62677200	Strong transcription	H9 Cell Line	embryonic stem cell
4	chr1:62670400-62677200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:62671800-62678200	Strong transcription	H1 Cell Line	embryonic stem cell
6	chr1:62672200-62677400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr1:62673800-62677200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
8	chr1:62673800-62677200	ZNF genes & repeats	Fetal Lung	lung
9	chr1:62674000-62677200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:62674400-62676800	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr1:62674400-62678800	Weak transcription	Colonic Mucosa	Colon
12	chr1:62675400-62676800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:62675400-62677000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr1:62675400-62677000	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:62675600-62677200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
16	chr1:62675800-62677000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:62675800-62677400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:62675800-62684600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr1:62676200-62680400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:62676200-62683400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:62676200-62683600	Weak transcription	Right Atrium	heart
22	chr1:62676200-62689600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr1:62676400-62676800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr1:62676400-62677200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr1:62676400-62677800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:62676600-62677200	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:62676600-62677600	Strong transcription	HUES48 Cell Line	embryonic stem cell

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