Variant report

Variant	rs72738743
Chromosome Location	chr15:78785802-78785803
allele	G/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	POLR2A	chr15:78785793-78785911	HepG2	liver:	n/a	n/a
2	POLR2A	chr15:78784951-78786730	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78785104..78787346-chr15:78855967..78858154,2	MCF-7	breast:
2	chr15:78785786..78788600-chr15:78798276..78800163,3	K562	blood:
3	chr15:78775448..78779203-chr15:78783785..78786320,3	MCF-7	breast:
4	chr15:78783856..78786006-chr15:78856773..78858650,2	MCF-7	breast:

Variant related genes	Relation type
IREB2	TF binding region
ENSG00000136381	Chromatin interaction
ENSG00000188266	Chromatin interaction
ENSG00000169684	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11634990	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11637193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16969874	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs16969883	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16969899	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16969906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2292116	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2869048	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3743079	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3817092	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57338032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57839482	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58766815	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61299530	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61388072	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72738729	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72738757	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8036042	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
rs72738743	IREB2	cis	Whole Blood	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr15:78751000-78793200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr15:78754000-78789400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr15:78754400-78787600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr15:78754600-78793400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr15:78754800-78793800	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr15:78755000-78787000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr15:78755000-78787000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr15:78755000-78793800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:78755000-78794400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr15:78755200-78787000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr15:78755200-78792600	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr15:78755200-78793400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:78755200-78793600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr15:78755200-78793800	Strong transcription	Fetal Thymus	thymus
16	chr15:78755200-78794000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr15:78755200-78794600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr15:78755400-78791400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr15:78755400-78791400	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:78755400-78791800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr15:78755400-78792600	Strong transcription	Fetal Muscle Leg	muscle
22	chr15:78755400-78793600	Strong transcription	Liver	Liver
23	chr15:78756000-78792800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr15:78756000-78793600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr15:78757000-78789600	Weak transcription	Stomach Mucosa	stomach
26	chr15:78759000-78793000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr15:78759800-78793800	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr15:78760800-78787000	Weak transcription	Aorta	Aorta
29	chr15:78761800-78792000	Strong transcription	Duodenum Mucosa	Duodenum
30	chr15:78762200-78791600	Strong transcription	Fetal Intestine Large	intestine
31	chr15:78766000-78799200	Weak transcription	Fetal Heart	heart
32	chr15:78767800-78792600	Strong transcription	Primary T cells from cord blood	blood
33	chr15:78767800-78794200	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr15:78771000-78790200	Weak transcription	Psoas Muscle	Psoas
35	chr15:78772400-78794600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr15:78773400-78786800	Strong transcription	Thymus	Thymus
37	chr15:78774200-78792000	Strong transcription	Hela-S3	cervix
38	chr15:78774400-78787000	Strong transcription	A549	lung
39	chr15:78774600-78792800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr15:78774800-78792600	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr15:78774800-78793400	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr15:78775000-78787000	Strong transcription	Left Ventricle	heart
43	chr15:78775000-78791200	Strong transcription	GM12878-XiMat	blood
44	chr15:78775000-78793400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr15:78775200-78786200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:78775200-78791200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:78775400-78791600	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr15:78775400-78793600	Strong transcription	Osteobl	bone
49	chr15:78775400-78793800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:78775400-78794000	Strong transcription	Placenta	Placenta

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