Variant report

Variant	rs72738729
Chromosome Location	chr15:78750052-78750053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78591467..78594108-chr15:78749535..78752267,2	K562	blood:
2	chr15:78735474..78739238-chr15:78747549..78750774,3	MCF-7	breast:
3	chr15:78748240..78750749-chr15:78750932..78754713,4	K562	blood:

Variant related genes	Relation type
ENSG00000140395	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11634990	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637193	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16969874	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969883	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969899	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969906	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292116	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2869048	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743079	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57338032	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57839482	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58766815	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61299530	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61388072	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72738715	0.80[EUR][1000 genomes]
rs72738743	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72738757	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8036042	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv917303	chr15:78491050-79205255	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
3	nsv833063	chr15:78605215-78754945	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	esv1806890	chr15:78744695-78786064	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72738729	IREB2	cis	Whole Blood	GTEx

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78731600-78756400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:78731600-78760200	Weak transcription	Aorta	Aorta
3	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr15:78732800-78758600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:78739200-78755200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr15:78739600-78755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:78740400-78753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr15:78740600-78756000	Weak transcription	Brain Germinal Matrix	brain
9	chr15:78741200-78755400	Weak transcription	Fetal Stomach	stomach
10	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:78742000-78753000	Weak transcription	Dnd41	blood
12	chr15:78742000-78753400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:78742600-78750400	Weak transcription	HepG2	liver
14	chr15:78742800-78753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:78743000-78751000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr15:78743000-78752800	Weak transcription	Brain Angular Gyrus	brain
17	chr15:78743200-78755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:78743200-78755400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr15:78743200-78756000	Weak transcription	Placenta	Placenta
20	chr15:78743200-78756000	Weak transcription	HMEC	breast
21	chr15:78743200-78759800	Weak transcription	Esophagus	oesophagus
22	chr15:78743600-78750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr15:78743800-78754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr15:78744200-78750200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr15:78744600-78750800	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr15:78744600-78755400	Weak transcription	Thymus	Thymus
27	chr15:78745200-78750600	Enhancers	Adipose Nuclei	Adipose
28	chr15:78745600-78750200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr15:78746000-78751000	Enhancers	Rectal Smooth Muscle	rectum
30	chr15:78746000-78753800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr15:78746200-78752600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr15:78746200-78753200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr15:78746200-78754000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr15:78746400-78750400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr15:78746400-78752200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:78746800-78750800	Weak transcription	Primary T cells from cord blood	blood
37	chr15:78747200-78750600	Enhancers	Duodenum Mucosa	Duodenum
38	chr15:78747400-78751000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr15:78747400-78753200	Weak transcription	Primary B cells from cord blood	blood
40	chr15:78747600-78750200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr15:78747600-78750400	Enhancers	Fetal Lung	lung
42	chr15:78747600-78752400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr15:78747800-78752800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr15:78748000-78753200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:78748000-78753400	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr15:78748000-78753400	Weak transcription	Primary B cells from peripheral blood	blood
47	chr15:78748000-78753400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:78748000-78753800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr15:78748400-78751000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr15:78748400-78753400	Weak transcription	Monocytes-CD14+_RO01746	blood

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