Variant report

Variant	rs7183326
Chromosome Location	chr15:53075401-53075402
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	MAX	chr15:53075304-53076060	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr15:53075317-53076405	SK-N-SH	brain:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
3	MAX	chr15:53075299-53075883	H1-hESC	embryonic stem cell:	n/a	n/a
4	REST	chr15:53075239-53076400	PFSK-1	brain:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
5	REST	chr15:53075258-53076668	H1-neurons	neurons:	n/a	chr15:53076445-53076454 chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
6	REST	chr15:53075238-53076449	H1-hESC	embryonic stem cell:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
7	REST	chr15:53075336-53076565	ECC-1	luminal epithelium:	n/a	chr15:53076445-53076454 chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
8	MAX	chr15:53075217-53075851	H1-hESC	embryonic stem cell:	n/a	n/a
9	REST	chr15:53075300-53076453	H1-hESC	embryonic stem cell:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
10	REST	chr15:53075260-53076097	PFSK-1	brain:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
11	REST	chr15:53075378-53076318	A549	lung:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
12	SIN3A	chr15:53075325-53077329	H1-hESC	embryonic stem cell:	n/a	chr15:53075700-53075714 chr15:53075699-53075709
13	REST	chr15:53075357-53076189	PANC-1	pancreas:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
14	REST	chr15:53075253-53076433	ECC-1	luminal epithelium:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
15	TEAD4	chr15:53075331-53075865	A549	lung:	n/a	n/a
16	REST	chr15:53075304-53075988	MCF-7	breast:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
17	REST	chr15:53075236-53076488	HL-60	blood:	n/a	chr15:53076445-53076454 chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715
18	REST	chr15:53075346-53076150	PANC-1	pancreas:	n/a	chr15:53075700-53075709 chr15:53075698-53075711 chr15:53075695-53075715 chr15:53075701-53075715

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:53072465..53075963-chr15:53080706..53083147,3	MCF-7	breast:

Variant related genes	Relation type
ONECUT1	TF binding region
ENSG00000169856	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16965168	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16965288	1.00[AMR][1000 genomes]
rs28623177	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61745272	1.00[AMR][1000 genomes]
rs73413462	1.00[AMR][1000 genomes]
rs8041658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv471245	chr15:52607262-53187165	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1041421	chr15:52661342-53148286	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv457142	chr15:53041887-53091896	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
4	nsv569427	chr15:53041887-53091896	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
5	nsv1046970	chr15:53065114-53142386	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
6	nsv569428	chr15:53069874-53140045	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:53075200-53075600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:53075200-53075600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
3	chr15:53075200-53075800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr15:53075200-53075800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr15:53075200-53076000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
6	chr15:53075200-53076000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
7	chr15:53075200-53076600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
8	chr15:53075200-53077000	Flanking Active TSS	Liver	Liver
9	chr15:53075200-53077600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
10	chr15:53075200-53078000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
11	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
12	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
13	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr15:53075400-53075600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
15	chr15:53075400-53075600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
17	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
18	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr15:53075400-53075600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
20	chr15:53075400-53075600	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
21	chr15:53075400-53075600	Bivalent Enhancer	Esophagus	oesophagus
22	chr15:53075400-53075600	Bivalent Enhancer	Placenta	Placenta
23	chr15:53075400-53075600	Enhancers	Gastric	stomach
24	chr15:53075400-53075600	Flanking Active TSS	Pancreas	Pancrea
25	chr15:53075400-53075600	Bivalent Enhancer	Right Atrium	heart
26	chr15:53075400-53075800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
27	chr15:53075400-53075800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr15:53075400-53075800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr15:53075400-53075800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:53075400-53075800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr15:53075400-53075800	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:53075400-53076000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:53075400-53076200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
34	chr15:53075400-53076200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
35	chr15:53075400-53076200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr15:53075400-53076400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr15:53075400-53076400	Bivalent Enhancer	Spleen	Spleen
38	chr15:53075400-53076600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
39	chr15:53075400-53076600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
40	chr15:53075400-53076800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr15:53075400-53076800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
42	chr15:53075400-53077200	Enhancers	HepG2	liver
43	chr15:53075400-53077600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr15:53075400-53078800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
45	chr15:53075400-53081000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
46	chr15:53075400-53082000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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