Variant report

Variant	rs12914046
Chromosome Location	chr15:59848242-59848243
allele	A/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	STAT3	chr15:59847922-59848305	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr15:59847714-59848318	Hela-S3	cervix:	n/a	n/a
3	EP300	chr15:59847937-59848273	Hela-S3	cervix:	n/a	n/a
4	RAD21	chr15:59847913-59848286	Hela-S3	cervix:	n/a	n/a
5	FOS	chr15:59847932-59848323	MCF10A-Er-Src	breast:	n/a	n/a
6	NR2F2	chr15:59847797-59848254	MCF-7	breast:	n/a	n/a
7	RFX5	chr15:59847925-59848347	Hela-S3	cervix:	n/a	n/a
8	NR3C1	chr15:59847972-59848261	A549	lung:	n/a	n/a
9	NR3C1	chr15:59847757-59848421	A549	lung:	n/a	n/a
10	TFAP2C	chr15:59847751-59848981	Hela-S3	cervix:	n/a	n/a
11	SP1	chr15:59847856-59848373	A549	lung:	n/a	n/a
12	TFAP2A	chr15:59847753-59848930	Hela-S3	cervix:	n/a	chr15:59848682-59848697 chr15:59848686-59848697
13	TCF12	chr15:59847722-59848502	A549	lung:	n/a	n/a
14	MAX	chr15:59847897-59848445	Hela-S3	cervix:	n/a	n/a
15	CHD2	chr15:59847923-59848307	Hela-S3	cervix:	n/a	n/a
16	FOSL2	chr15:59847801-59848403	A549	lung:	n/a	n/a
17	TCF7L2	chr15:59847918-59848336	Hela-S3	cervix:	n/a	n/a
18	RCOR1	chr15:59847665-59848509	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr15:59848179-59848267	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr15:59847856-59848422	Hela-S3	cervix:	n/a	n/a
21	SP1	chr15:59847848-59848445	A549	lung:	n/a	n/a
22	STAT3	chr15:59847910-59848286	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr15:59847987-59848325	MCF10A-Er-Src	breast:	n/a	n/a
24	NR3C1	chr15:59847876-59848357	A549	lung:	n/a	n/a
25	FOS	chr15:59847897-59848341	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr15:59847911-59848338	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr15:59847913-59848330	Hela-S3	cervix:	n/a	n/a
28	STAT3	chr15:59847995-59848296	MCF10A-Er-Src	breast:	n/a	n/a
29	NR3C1	chr15:59847930-59848360	A549	lung:	n/a	n/a
30	STAT3	chr15:59847935-59848327	MCF10A-Er-Src	breast:	n/a	n/a
31	MAFK	chr15:59847939-59848321	Hela-S3	cervix:	n/a	n/a
32	BRCA1	chr15:59847846-59848358	Hela-S3	cervix:	n/a	n/a
33	SMARCC1	chr15:59847678-59848890	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59843141..59845344-chr15:59847957..59850222,2	K562	blood:

Variant related genes	Relation type
ENSG00000240238	TF binding region
ENSG00000240238	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10083653	0.90[EUR][1000 genomes]
rs10152904	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10163153	0.83[EUR][1000 genomes]
rs11856554	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11856580	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12438840	0.86[EUR][1000 genomes]
rs12902622	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12908589	0.88[EUR][1000 genomes]
rs17236671	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17269684	0.84[EUR][1000 genomes]
rs28514722	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34444281	0.82[EUR][1000 genomes]
rs34642067	0.85[EUR][1000 genomes]
rs35384735	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35461856	0.91[EUR][1000 genomes]
rs35743616	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36034625	0.88[EUR][1000 genomes]
rs4419005	0.88[EUR][1000 genomes]
rs4597252	0.86[EUR][1000 genomes]
rs71480534	0.90[EUR][1000 genomes]
rs71480535	0.86[EUR][1000 genomes]
rs71480536	0.86[EUR][1000 genomes]
rs7179805	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8041216	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1044442	chr15:59765724-59955587	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv542403	chr15:59765724-59955587	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59841600-59861600	Weak transcription	Gastric	stomach
2	chr15:59843600-59851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr15:59845400-59849200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr15:59845600-59849000	Enhancers	HMEC	breast
5	chr15:59846000-59848600	Enhancers	Fetal Intestine Large	intestine
6	chr15:59846000-59848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:59846000-59848800	Enhancers	Duodenum Mucosa	Duodenum
8	chr15:59846000-59848800	Enhancers	Fetal Intestine Small	intestine
9	chr15:59846000-59848800	Enhancers	Stomach Mucosa	stomach
10	chr15:59846000-59848800	Enhancers	NHEK	skin
11	chr15:59847200-59848400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:59847600-59848400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr15:59847600-59848800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr15:59847600-59849400	Enhancers	Small Intestine	intestine
15	chr15:59847800-59848400	Enhancers	Osteobl	bone
16	chr15:59848000-59848400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:59848000-59848400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:59848000-59848400	Enhancers	Esophagus	oesophagus
19	chr15:59848000-59848800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr15:59848000-59849000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:59848200-59848400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
22	chr15:59848200-59848400	Enhancers	A549	lung
23	chr15:59848200-59848800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:59848200-59848800	Flanking Active TSS	Hela-S3	cervix
25	chr15:59848200-59848800	Enhancers	HSMMtube	muscle
26	chr15:59848200-59849400	Bivalent Enhancer	HepG2	liver
27	chr15:59848200-59850200	Enhancers	K562	blood

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