Variant report

Variant	rs72742676
Chromosome Location	chr15:56761558-56761559
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	IRF1	chr15:56761501-56761576	K562	blood:	n/a	n/a
2	IRF1	chr15:56761546-56761727	K562	blood:	n/a	chr15:56761569-56761581
3	SPI1	chr15:56761503-56762152	HL-60	blood:	n/a	n/a

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

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

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1087837	0.82[EUR][1000 genomes]
rs11636793	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11636802	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11638060	0.84[EUR][1000 genomes]
rs11639320	0.92[EUR][1000 genomes]
rs16976932	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711483	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1715919	0.89[EUR][1000 genomes]
rs17238775	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3848113	0.81[EUR][1000 genomes]
rs72742652	0.81[EUR][1000 genomes]
rs72742667	0.82[EUR][1000 genomes]
rs72742674	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72742680	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72742684	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72742686	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs795785	0.81[EUR][1000 genomes]
rs795793	0.81[EUR][1000 genomes]

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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56757800-56761600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr15:56757800-56761600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:56757800-56761600	Weak transcription	Fetal Intestine Large	intestine
4	chr15:56757800-56761600	Weak transcription	Fetal Intestine Small	intestine
5	chr15:56757800-56761600	Weak transcription	Placenta	Placenta
6	chr15:56757800-56761600	Weak transcription	Pancreas	Pancrea
7	chr15:56757800-56761600	Weak transcription	K562	blood
8	chr15:56758000-56761600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr15:56758400-56761600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr15:56760400-56761800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr15:56760600-56761600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr15:56761000-56761600	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr15:56761000-56761600	Weak transcription	Fetal Thymus	thymus
14	chr15:56761000-56761600	Weak transcription	Thymus	Thymus
15	chr15:56761000-56762000	Enhancers	Liver	Liver
16	chr15:56761000-56762200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr15:56761200-56761600	Enhancers	HepG2	liver
18	chr15:56761200-56761800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr15:56761200-56762000	Enhancers	Primary T cells from cord blood	blood
20	chr15:56761200-56762000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:56761200-56762200	Enhancers	Primary hematopoietic stem cells	blood
22	chr15:56761400-56761800	Enhancers	Duodenum Mucosa	Duodenum
23	chr15:56761400-56762000	Enhancers	Dnd41	blood
24	chr15:56761400-56762200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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