Variant report

Variant	rs4318547
Chromosome Location	chr3:118901043-118901044
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr3:118900491-118901069	A549	lung:	n/a	n/a
2	GATA3	chr3:118900561-118901174	A549	lung:	n/a	n/a
3	GATA3	chr3:118900268-118901481	A549	lung:	n/a	n/a
4	BCL3	chr3:118900273-118901162	A549	lung:	n/a	n/a
5	RAD21	chr3:118900485-118901181	A549	lung:	n/a	n/a
6	REST	chr3:118900341-118901341	A549	lung:	n/a	n/a
7	MAX	chr3:118900301-118901842	A549	lung:	n/a	n/a
8	CEBPB	chr3:118900290-118901186	A549	lung:	n/a	n/a
9	MAX	chr3:118900381-118901234	A549	lung:	n/a	n/a
10	CEBPB	chr3:118900470-118901152	A549	lung:	n/a	n/a
11	NR3C1	chr3:118900571-118901160	A549	lung:	n/a	n/a
12	JUND	chr3:118900484-118901064	A549	lung:	n/a	n/a
13	TCF12	chr3:118900187-118901688	A549	lung:	n/a	n/a
14	EP300	chr3:118900164-118901703	A549	lung:	n/a	n/a
15	YY1	chr3:118900589-118901046	A549	lung:	n/a	n/a
16	NR3C1	chr3:118900537-118901070	A549	lung:	n/a	n/a
17	NR3C1	chr3:118900503-118901062	A549	lung:	n/a	n/a
18	SP1	chr3:118900102-118901677	A549	lung:	n/a	chr3:118900929-118900941
19	FOSL2	chr3:118900260-118901213	A549	lung:	n/a	n/a
20	SP1	chr3:118900344-118901362	A549	lung:	n/a	chr3:118900929-118900941
21	FOXA2	chr3:118900353-118901570	A549	lung:	n/a	chr3:118900532-118900544 chr3:118900540-118900552
22	FOXA2	chr3:118900426-118901205	A549	lung:	n/a	chr3:118900532-118900544 chr3:118900540-118900552
23	EP300	chr3:118900244-118901628	A549	lung:	n/a	n/a
24	TEAD4	chr3:118900389-118901172	A549	lung:	n/a	n/a
25	TEAD4	chr3:118900489-118901141	A549	lung:	n/a	n/a
26	USF1	chr3:118900491-118901053	A549	lung:	n/a	n/a
27	MAX	chr3:118900745-118901204	A549	lung:	n/a	n/a
28	MYC	chr3:118900745-118901094	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:118897325..118898996-chr3:118899726..118902200,2	MCF-7	breast:
2	chr3:118900334..118903084-chr3:118903696..118906077,2	MCF-7	breast:
3	chr3:118892884..118895765-chr3:118897916..118901609,3	MCF-7	breast:
4	chr3:118894224..118896786-chr3:118901014..118905072,3	MCF-7	breast:

No data

Variant related genes	Relation type
UPK1B	TF binding region
ENSG00000114638	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs4322992	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4687978	0.97[ASN][1000 genomes]
rs6438501	0.90[ASN][1000 genomes]
rs6779584	1.00[CHB][hapmap];0.93[JPT][hapmap]
rs6797198	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614071	0.85[CEU][hapmap];0.91[YRI][hapmap];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7616950	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9289124	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9813310	0.90[ASN][1000 genomes]
rs9819501	0.94[ASN][1000 genomes]
rs9868984	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][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	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829692	chr3:118727772-118901711	Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv18354	chr3:118855337-119000251	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:118884000-118914200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:118899000-118905000	Enhancers	Stomach Mucosa	stomach
3	chr3:118899600-118905200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:118899800-118904400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr3:118899800-118904800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr3:118900000-118904800	Enhancers	HMEC	breast
7	chr3:118900400-118901400	Enhancers	Muscle Satellite Cultured Cells	--
8	chr3:118900600-118901200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr3:118900600-118901200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr3:118900600-118901600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:118900600-118901600	Enhancers	Fetal Intestine Large	intestine
12	chr3:118900600-118901600	Flanking Active TSS	A549	lung
13	chr3:118900600-118901800	Enhancers	Placenta	Placenta
14	chr3:118900600-118902200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:118900600-118904800	Enhancers	NHEK	skin
16	chr3:118900600-118908400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:118900800-118901200	Enhancers	Osteobl	bone
18	chr3:118901000-118901200	Enhancers	Hela-S3	cervix
19	chr3:118901000-118902800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:118901000-118903000	Weak transcription	NH-A	brain
21	chr3:118901000-118904000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr3:118901000-118904000	Weak transcription	NHDF-Ad	bronchial
23	chr3:118901000-118905400	Enhancers	Fetal Intestine Small	intestine
24	chr3:118901000-118924200	Weak transcription	Pancreas	Pancrea

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