Variant report

Variant	rs57024266
Chromosome Location	chr14:68069908-68069909
allele	C/T
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	BHLHE40	chr14:68069773-68070019	GM12878	blood:	n/a	n/a
2	POU2F2	chr14:68069656-68070119	GM12878	blood:	n/a	chr14:68069951-68069964
3	FOS	chr14:68069890-68070265	MCF10A-Er-Src	breast:	n/a	n/a
4	ELF1	chr14:68069695-68070109	GM12878	blood:	n/a	n/a
5	PAX5	chr14:68069669-68070051	GM12878	blood:	n/a	chr14:68069850-68069869
6	POLR2A	chr14:68069760-68069931	GM12878	blood:	n/a	n/a
7	JUND	chr14:68069900-68070216	Hela-S3	cervix:	n/a	chr14:68070065-68070076
8	MXI1	chr14:68069703-68070004	GM12878	blood:	n/a	n/a
9	RUNX3	chr14:68069655-68070114	GM12878	blood:	n/a	n/a
10	TBL1XR1	chr14:68069796-68069999	GM12878	blood:	n/a	n/a
11	PAX5	chr14:68069655-68069984	GM12891	blood:	n/a	chr14:68069850-68069869
12	PAX5	chr14:68069693-68070160	GM12878	blood:	n/a	chr14:68069850-68069869
13	FOS	chr14:68069897-68070260	MCF10A-Er-Src	breast:	n/a	n/a
14	POU2F2	chr14:68069764-68070119	GM12891	blood:	n/a	chr14:68069951-68069964
15	POU2F2	chr14:68069800-68070021	GM12878	blood:	n/a	chr14:68069951-68069964
16	MAZ	chr14:68069803-68070084	GM12878	blood:	n/a	n/a
17	BCLAF1	chr14:68069595-68070124	GM12878	blood:	n/a	n/a
18	RUNX3	chr14:68069652-68070038	GM12878	blood:	n/a	n/a
19	SP1	chr14:68069657-68070066	GM12878	blood:	n/a	n/a
20	PAX5	chr14:68069764-68069987	GM12892	blood:	n/a	chr14:68069850-68069869
21	TAF1	chr14:68069621-68070019	GM12878	blood:	n/a	n/a
22	POU2F2	chr14:68069750-68070098	GM12878	blood:	n/a	chr14:68069951-68069964
23	FOSL2	chr14:68069848-68070195	HepG2	liver:	n/a	n/a
24	TBP	chr14:68069786-68069917	GM12878	blood:	n/a	n/a
25	PAX5	chr14:68069672-68069927	GM12891	blood:	n/a	chr14:68069850-68069869
26	FOS	chr14:68069903-68070272	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr14:68069891-68070260	MCF10A-Er-Src	breast:	n/a	n/a
28	PAX5	chr14:68069750-68069975	GM12878	blood:	n/a	chr14:68069850-68069869
29	PAX5	chr14:68069667-68070087	GM12878	blood:	n/a	chr14:68069850-68069869
30	ELK1	chr14:68069844-68070014	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:68068683..68070494-chr14:68139357..68141644,2	MCF-7	breast:

Variant related genes	Relation type
PIGH	TF binding region
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs35106153	1.00[AMR][1000 genomes]
rs35917338	1.00[AMR][1000 genomes]
rs57048278	1.00[AMR][1000 genomes]
rs59589798	1.00[AMR][1000 genomes]
rs59922989	1.00[AMR][1000 genomes]
rs60013875	1.00[AMR][1000 genomes]
rs60273960	1.00[AMR][1000 genomes]
rs60782801	1.00[AMR][1000 genomes]
rs61011477	1.00[AMR][1000 genomes]
rs61584136	1.00[AMR][1000 genomes]
rs73272331	1.00[AMR][1000 genomes]
rs73274539	1.00[AMR][1000 genomes]
rs73276671	1.00[AMR][1000 genomes]
rs73276676	1.00[AMR][1000 genomes]
rs73276687	1.00[AMR][1000 genomes]
rs73278432	1.00[AMR][1000 genomes]
rs73278469	1.00[AMR][1000 genomes]
rs73280405	1.00[AMR][1000 genomes]
rs73280424	1.00[AMR][1000 genomes]
rs73280429	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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68067400-68070200	Weak transcription	Pancreas	Pancrea
2	chr14:68067400-68070400	Enhancers	Primary B cells from cord blood	blood
3	chr14:68067400-68070800	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:68067400-68071200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:68067400-68076600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:68069200-68070000	Active TSS	GM12878-XiMat	blood
7	chr14:68069600-68070000	Flanking Active TSS	Fetal Kidney	kidney
8	chr14:68069600-68071400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr14:68069800-68070000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:68069800-68070000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr14:68069800-68070000	Enhancers	Placenta	Placenta
12	chr14:68069800-68070000	Enhancers	NHEK	skin
13	chr14:68069800-68070400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr14:68069800-68070400	Enhancers	HepG2	liver
15	chr14:68069800-68070600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:68069800-68070600	Enhancers	Ovary	ovary

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