Variant report

Variant	rs8029713
Chromosome Location	chr15:42387118-42387119
allele	A/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	EBF1	chr15:42386840-42387204	GM12878	blood:	n/a	chr15:42386999-42387009 chr15:42386998-42387009
2	RAD21	chr15:42386633-42387177	MCF-7	breast:	n/a	n/a
3	RAD21	chr15:42386769-42387166	HepG2	liver:	n/a	n/a
4	CTCF	chr15:42386710-42387212	MCF-7	breast:	n/a	chr15:42386954-42386967 chr15:42386900-42386908
5	CTCF	chr15:42386787-42387124	GM12878	blood:	n/a	chr15:42386954-42386967 chr15:42386900-42386908
6	CTCF	chr15:42386980-42387130	NHEK	skin:	n/a	n/a
7	CTCF	chr15:42386604-42387195	HCT-116	colon:	n/a	chr15:42386954-42386967 chr15:42386900-42386908
8	CTCF	chr15:42386676-42387257	MCF-7	breast:	n/a	chr15:42386954-42386967 chr15:42386900-42386908
9	ZNF263	chr15:42386678-42387315	HEK293-T-REx	kidney:	n/a	chr15:42387083-42387092
10	CTCF	chr15:42386744-42387129	HepG2	liver:	n/a	chr15:42386954-42386967 chr15:42386900-42386908
11	CTCF	chr15:42386980-42387130	GM12871	blood:	n/a	n/a
12	RAD21	chr15:42386693-42387216	MCF-7	breast:	n/a	n/a
13	NFIC	chr15:42386635-42387334	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr15:42386585-42387297	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
PLA2G4D	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs12148273	1.00[CEU][hapmap]
rs12148416	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17690109	1.00[CEU][hapmap]
rs17690827	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17690899	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17691153	0.87[EUR][1000 genomes]
rs17691880	0.87[EUR][1000 genomes]
rs17747505	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17748059	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17748132	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17748317	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2412656	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs35200589	0.86[EUR][1000 genomes]
rs4923923	0.85[EUR][1000 genomes]
rs4923924	0.87[EUR][1000 genomes]
rs4923925	0.87[EUR][1000 genomes]
rs4923926	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4923927	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4923928	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924609	0.90[CEU][hapmap]
rs4924611	1.00[CEU][hapmap]
rs4924614	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4924615	0.87[EUR][1000 genomes]
rs4924616	0.87[EUR][1000 genomes]
rs4924617	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs4924619	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4924620	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7162019	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165458	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7165460	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7166026	0.87[EUR][1000 genomes]
rs7166093	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7166111	0.87[EUR][1000 genomes]
rs7166789	1.00[CEU][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7168863	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs7173686	0.87[EUR][1000 genomes]
rs7176443	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7176459	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177034	1.00[CEU][hapmap]
rs7180420	0.87[EUR][1000 genomes]
rs750051	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs750052	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs755599	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs8042953	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv529687	chr15:42157320-42621682	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
4	nsv1049445	chr15:42239738-42830484	Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv542366	chr15:42239738-42830484	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv471683	chr15:42334375-42502982	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv904131	chr15:42343794-42390223	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
8	nsv904132	chr15:42343794-42398046	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
9	nsv832985	chr15:42371482-42564966	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
10	nsv436201	chr15:42380264-42387429	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:42384200-42387600	Enhancers	HMEC	breast
2	chr15:42384400-42388200	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr15:42384800-42387200	Enhancers	Esophagus	oesophagus
4	chr15:42384800-42387200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr15:42385200-42387400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr15:42385400-42387200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:42385400-42387400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr15:42385600-42392400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:42385800-42387400	Enhancers	NHEK	skin
10	chr15:42386000-42387600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr15:42386000-42397600	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr15:42386400-42387400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr15:42386600-42388400	Enhancers	Fetal Thymus	thymus
14	chr15:42386800-42387200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr15:42386800-42387200	Active TSS	Spleen	Spleen
16	chr15:42386800-42387200	Enhancers	GM12878-XiMat	blood
17	chr15:42386800-42388200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr15:42386800-42392200	Weak transcription	Gastric	stomach
19	chr15:42386800-42392600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr15:42386800-42392600	Weak transcription	Pancreas	Pancrea
21	chr15:42387000-42387200	Enhancers	H1 Cell Line	embryonic stem cell
22	chr15:42387000-42387200	Flanking Bivalent TSS/Enh	HepG2	liver

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