Variant report

Variant	rs11264324
Chromosome Location	chr1:155090212-155090213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr1:155090133-155090565	MCF-7	breast:	n/a	n/a
2	EP300	chr1:155090104-155090560	MCF-7	breast:	n/a	n/a
3	NR2F2	chr1:155090120-155090729	MCF-7	breast:	n/a	n/a
4	FOXA1	chr1:155090155-155090464	T-47D	breast:	n/a	n/a
5	SIN3AK20	chr1:155090107-155090664	MCF-7	breast:	n/a	n/a
6	TCF7L2	chr1:155090204-155090349	MCF-7	breast:	n/a	n/a
7	ZNF217	chr1:155090127-155090526	MCF-7	breast:	n/a	n/a
8	TCF12	chr1:155090090-155090619	MCF-7	breast:	n/a	n/a
9	MAX	chr1:155090104-155090657	MCF-7	breast:	n/a	n/a
10	RAD21	chr1:155090143-155090553	MCF-7	breast:	n/a	n/a
11	TCF12	chr1:155089977-155090765	MCF-7	breast:	n/a	n/a
12	EP300	chr1:155090114-155090674	MCF-7	breast:	n/a	n/a
13	FOSL2	chr1:155090107-155090614	MCF-7	breast:	n/a	n/a
14	NR2F2	chr1:155090097-155090644	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr1:155090124-155090786	MCF-7	breast:	n/a	n/a
16	GATA3	chr1:155089980-155090910	MCF-7	breast:	n/a	n/a
17	CEBPB	chr1:155090101-155090570	MCF-7	breast:	n/a	n/a
18	GATA3	chr1:155090119-155090554	T-47D	breast:	n/a	n/a
19	EP300	chr1:155090158-155090560	T-47D	breast:	n/a	n/a
20	HDAC2	chr1:155090074-155090676	MCF-7	breast:	n/a	n/a
21	HDAC2	chr1:155090124-155090548	MCF-7	breast:	n/a	n/a
22	FOXA1	chr1:155090155-155090416	T-47D	breast:	n/a	n/a
23	EP300	chr1:155090142-155090553	T-47D	breast:	n/a	n/a
24	GATA3	chr1:155090115-155090590	T-47D	breast:	n/a	n/a
25	GATA2	chr1:155090203-155090499	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr1:155090082-155090732	MCF-7	breast:	n/a	n/a
27	GATA3	chr1:155090162-155090502	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:155049589..155073019-chr1:155085330..155115362,149	MCF-7	breast:
2	chr1:155090194..155092132-chr1:155163035..155164929,2	MCF-7	breast:
3	chr1:155089510..155091697-chr1:155093424..155095610,2	K562	blood:
4	chr1:155084271..155086280-chr1:155088992..155090522,2	MCF-7	breast:
5	chr1:155090093..155090811-chr1:155102343..155102951,2	MCF-7	breast:
6	chr1:155088071..155090711-chr1:155196886..155199315,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000202027	TF binding region
ENSG00000160766	Chromatin interaction
ENSG00000143590	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10908457	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11264325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11264326	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12081692	1.00[EUR][1000 genomes]
rs12126992	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13375955	1.00[EUR][1000 genomes]
rs1462854	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28670060	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57157364	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs58925616	0.94[EUR][1000 genomes]
rs66474937	0.98[EUR][1000 genomes]
rs67333363	0.90[EUR][1000 genomes]
rs72702273	0.90[EUR][1000 genomes]
rs72702285	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72702288	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72702293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73001391	1.00[EUR][1000 genomes]
rs7517158	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7517162	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7548383	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	esv1823746	chr1:154965207-155231904	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
3	nsv872455	chr1:155003954-155106550	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv998756	chr1:155080090-155136545	Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	nsv464084	chr1:155082298-155194980	Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases
6	nsv547961	chr1:155082298-155194980	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	366 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155078600-155098400	Weak transcription	Right Atrium	heart
2	chr1:155086400-155092600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:155088400-155092400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:155089200-155092200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:155089200-155093400	Weak transcription	Gastric	stomach
6	chr1:155089200-155095000	Weak transcription	Hela-S3	cervix
7	chr1:155089600-155096800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:155090200-155090400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
9	chr1:155090200-155090400	Bivalent Enhancer	Placenta	Placenta
10	chr1:155090200-155090800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr1:155090200-155090800	Enhancers	GM12878-XiMat	blood
12	chr1:155090200-155093000	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr1:155090200-155094000	Enhancers	Rectal Mucosa Donor 31	rectum

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