Variant report

Variant	rs56305024
Chromosome Location	chr15:59847848-59847849
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	CEBPB	chr15:59847714-59848318	Hela-S3	cervix:	n/a	n/a
2	NR2F2	chr15:59847797-59848254	MCF-7	breast:	n/a	n/a
3	NR3C1	chr15:59847757-59848421	A549	lung:	n/a	n/a
4	TFAP2C	chr15:59847751-59848981	Hela-S3	cervix:	n/a	n/a
5	CEBPB	chr15:59847715-59848216	A549	lung:	n/a	n/a
6	TFAP2A	chr15:59847753-59848930	Hela-S3	cervix:	n/a	chr15:59848682-59848697 chr15:59848686-59848697
7	TCF12	chr15:59847722-59848502	A549	lung:	n/a	n/a
8	FOSL2	chr15:59847801-59848403	A549	lung:	n/a	n/a
9	RCOR1	chr15:59847665-59848509	Hela-S3	cervix:	n/a	n/a
10	GTF3C2	chr15:59847674-59848114	Hela-S3	cervix:	n/a	n/a
11	SP1	chr15:59847848-59848445	A549	lung:	n/a	n/a
12	MYC	chr15:59847828-59848240	MCF10A-Er-Src	breast:	n/a	n/a
13	BRCA1	chr15:59847846-59848358	Hela-S3	cervix:	n/a	n/a
14	SMARCC1	chr15:59847678-59848890	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:59842796..59844336-chr15:59845616..59847879,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000240238	TF binding region

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs17269643	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17269649	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28450345	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28465501	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28642985	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4334235	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55646727	0.85[EUR][1000 genomes]
rs55650268	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55677374	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55724601	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55895417	0.85[EUR][1000 genomes]
rs56252156	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59344823	0.84[EUR][1000 genomes]
rs67098767	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7176379	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181219	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181242	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72749183	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72749188	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72749190	0.83[ASN][1000 genomes]
rs72751123	0.87[EUR][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:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59841400-59848200	Enhancers	HepG2	liver
2	chr15:59841600-59861600	Weak transcription	Gastric	stomach
3	chr15:59843600-59851200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr15:59845400-59849200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:59845600-59848200	Enhancers	Hela-S3	cervix
6	chr15:59845600-59849000	Enhancers	HMEC	breast
7	chr15:59846000-59848200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:59846000-59848600	Enhancers	Fetal Intestine Large	intestine
9	chr15:59846000-59848800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr15:59846000-59848800	Enhancers	Duodenum Mucosa	Duodenum
11	chr15:59846000-59848800	Enhancers	Fetal Intestine Small	intestine
12	chr15:59846000-59848800	Enhancers	Stomach Mucosa	stomach
13	chr15:59846000-59848800	Enhancers	NHEK	skin
14	chr15:59846400-59848000	Enhancers	A549	lung
15	chr15:59846600-59848000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:59846600-59848000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:59846600-59848000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:59847000-59848000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:59847200-59848200	Weak transcription	K562	blood
20	chr15:59847200-59848400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr15:59847400-59848200	Weak transcription	HSMMtube	muscle
22	chr15:59847600-59848400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr15:59847600-59848800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
24	chr15:59847600-59849400	Enhancers	Small Intestine	intestine
25	chr15:59847800-59848200	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr15:59847800-59848400	Enhancers	Osteobl	bone

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