Variant report

Variant	rs45548140
Chromosome Location	chr2:31637673-31637674
allele	C/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	MYC	chr2:31637552-31637995	MCF10A-Er-Src	breast:	n/a	n/a
2	STAT3	chr2:31637517-31638146	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr2:31637574-31638225	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
4	FOS	chr2:31637496-31638463	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
5	MYC	chr2:31637516-31638166	MCF10A-Er-Src	breast:	n/a	n/a
6	CTCF	chr2:31637540-31637690	HFF	foreskin:	n/a	n/a
7	STAT3	chr2:31637635-31638002	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:31637543-31637982	MCF10A-Er-Src	breast:	n/a	n/a
9	E2F4	chr2:31637635-31637977	MCF10A-Er-Src	breast:	n/a	n/a
10	GATA3	chr2:31637576-31637918	T-47D	breast:	n/a	n/a
11	POLR2A	chr2:31636222-31638028	MCF10A-Er-Src	breast:	n/a	n/a
12	SP1	chr2:31637543-31638208	A549	lung:	n/a	chr2:31637647-31637668
13	STAT3	chr2:31637501-31638149	MCF10A-Er-Src	breast:	n/a	n/a
14	FOXA2	chr2:31637500-31638085	A549	lung:	n/a	n/a
15	STAT3	chr2:31637554-31638342	MCF10A-Er-Src	breast:	n/a	n/a
16	TCF12	chr2:31637092-31638016	A549	lung:	n/a	n/a
17	FOS	chr2:31637515-31638440	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
18	FOXA2	chr2:31637464-31638115	A549	lung:	n/a	n/a
19	FOXA1	chr2:31637603-31637883	T-47D	breast:	n/a	chr2:31637727-31637742
20	FOS	chr2:31637556-31638433	MCF10A-Er-Src	breast:	n/a	chr2:31637650-31637659
21	FOXA1	chr2:31637543-31637914	T-47D	breast:	n/a	chr2:31637727-31637742

Variant related genes	Relation type
XDH	TF binding region

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11674948	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678277	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11678415	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11680402	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11681398	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11685229	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11689709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11695020	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28383069	1.00[AMR][1000 genomes]
rs28383082	1.00[AMR][1000 genomes]
rs34269447	1.00[AMR][1000 genomes]
rs34615314	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs45486298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs45618231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58067858	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949028	chr2:31502801-31665108	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	nsv456030	chr2:31598823-31820256	Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv456041	chr2:31598823-31820256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv581269	chr2:31598823-31820256	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv998853	chr2:31601455-31858961	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1005565	chr2:31603134-31868877	Genic enhancers Active TSS Bivalent Enhancer Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1007179	chr2:31616112-31835410	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1005032	chr2:31616112-31867450	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv1013891	chr2:31629179-31854283	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv535612	chr2:31629179-31854283	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:31598400-31639000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr2:31634400-31638000	Active TSS	Fetal Intestine Large	intestine
3	chr2:31634600-31637800	Active TSS	Duodenum Mucosa	Duodenum
4	chr2:31634600-31637800	Active TSS	Fetal Intestine Small	intestine
5	chr2:31634600-31639200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:31635600-31638200	Flanking Active TSS	NHEK	skin
7	chr2:31636200-31638200	Flanking Active TSS	HMEC	breast
8	chr2:31636200-31638800	Enhancers	NHDF-Ad	bronchial
9	chr2:31636600-31637800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:31636600-31638000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr2:31636600-31638200	Enhancers	Placenta	Placenta
12	chr2:31637000-31638400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr2:31637000-31638400	Enhancers	Hela-S3	cervix
14	chr2:31637200-31638000	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr2:31637200-31638000	Enhancers	Esophagus	oesophagus
16	chr2:31637200-31638200	Enhancers	Pancreas	Pancrea
17	chr2:31637200-31638200	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:31637200-31638800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:31637200-31638800	Enhancers	Gastric	stomach
20	chr2:31637200-31639200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:31637400-31637800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:31637400-31638200	Enhancers	Brain Anterior Caudate	brain
23	chr2:31637400-31639600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr2:31637600-31637800	Active TSS	Liver	Liver
25	chr2:31637600-31638000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr2:31637600-31638000	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:31637600-31638000	Active TSS	Rectal Mucosa Donor 31	rectum
28	chr2:31637600-31638000	Active TSS	Stomach Mucosa	stomach
29	chr2:31637600-31638000	Bivalent Enhancer	HepG2	liver
30	chr2:31637600-31638200	Flanking Active TSS	A549	lung
31	chr2:31637600-31638400	Weak transcription	Colonic Mucosa	Colon
32	chr2:31637600-31639400	Enhancers	NHLF	lung
33	chr2:31637600-31639600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr2:31637600-31640000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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