Variant report

Variant	rs12591303
Chromosome Location	chr15:56761870-56761871
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:56761809-56761890	Gliobla	brain:	n/a	n/a
2	ATF1	chr15:56761692-56762037	K562	blood:	n/a	n/a
3	HNF4A	chr15:56761748-56762105	HepG2	liver:	n/a	n/a
4	SPI1	chr15:56761667-56761939	K562	blood:	n/a	n/a
5	SPI1	chr15:56761645-56761929	HL-60	blood:	n/a	n/a
6	SPI1	chr15:56761685-56761880	K562	blood:	n/a	n/a
7	RFX5	chr15:56761841-56762026	HepG2	liver:	n/a	n/a
8	TAL1	chr15:56761724-56761949	K562	blood:	n/a	n/a
9	SPI1	chr15:56761503-56762152	HL-60	blood:	n/a	n/a
10	SPI1	chr15:56761702-56761882	GM12891	blood:	n/a	n/a
11	HNF4A	chr15:56761750-56762027	HepG2	liver:	n/a	n/a
12	POLR2A	chr15:56761849-56761956	A549	lung:	n/a	n/a
13	CUX1	chr15:56761753-56762246	K562	blood:	n/a	n/a
14	SP1	chr15:56761702-56762130	HepG2	liver:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:56756734..56759056-chr15:56761429..56763544,2	K562	blood:

No data

Variant related genes	Relation type
MNS1	TF binding region
ENSG00000138587	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1087836	0.87[AMR][1000 genomes]
rs1087838	1.00[MEX][hapmap];0.87[AMR][1000 genomes]
rs11488881	0.84[AMR][1000 genomes]
rs12050881	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12443042	0.90[CHB][hapmap];0.88[CHD][hapmap]
rs12591109	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12593453	0.84[AMR][1000 genomes]
rs12594941	0.90[CHB][hapmap];0.90[CHD][hapmap];0.83[GIH][hapmap];0.85[YRI][hapmap]
rs1402173	0.90[CHB][hapmap]
rs16976847	0.90[CHB][hapmap];0.85[YRI][hapmap]
rs16976919	0.95[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2162216	0.90[CHB][hapmap]
rs2554286	0.84[AMR][1000 genomes]
rs3759868	0.85[CHB][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4142479	0.88[CHB][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes]
rs58619937	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs60861096	0.84[AMR][1000 genomes]
rs7177904	0.84[CHB][hapmap];0.90[CHD][hapmap]
rs795784	0.87[AMR][1000 genomes]
rs8023554	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1545	chr15:56659498-56897381	Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1046891	chr15:56659587-56792033	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv471330	chr15:56659709-56896385	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv471506	chr15:56659709-56896385	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv498847	chr15:56667038-56896395	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2525559	chr15:56669294-56897412	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv433294	chr15:56676457-56853535	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3693203	chr15:56676457-56894478	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	esv35150	chr15:56677730-56896304	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2757602	chr15:56736478-56790080	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	esv2760033	chr15:56736478-56790080	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12591303	CBX1	trans	brain	seeQTL

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56761000-56762000	Enhancers	Liver	Liver
2	chr15:56761000-56762200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr15:56761200-56762000	Enhancers	Primary T cells from cord blood	blood
4	chr15:56761200-56762000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr15:56761200-56762200	Enhancers	Primary hematopoietic stem cells	blood
6	chr15:56761400-56762000	Enhancers	Dnd41	blood
7	chr15:56761400-56762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr15:56761600-56762000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr15:56761600-56762000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:56761600-56762000	Enhancers	Fetal Intestine Large	intestine
11	chr15:56761600-56762000	Enhancers	Placenta	Placenta
12	chr15:56761600-56762000	Enhancers	Pancreas	Pancrea
13	chr15:56761600-56762000	Enhancers	Thymus	Thymus
14	chr15:56761600-56762000	Flanking Active TSS	HepG2	liver
15	chr15:56761600-56762000	Enhancers	K562	blood
16	chr15:56761600-56762200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:56761600-56762200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr15:56761600-56762400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:56761600-56762400	Enhancers	Fetal Intestine Small	intestine
20	chr15:56761800-56762000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:56761800-56762000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr15:56761800-56762000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:56761800-56762400	Flanking Active TSS	Duodenum Mucosa	Duodenum

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