Variant report

Variant	rs11634990
Chromosome Location	chr15:78771186-78771187
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	POLR2A	chr15:78767497-78771470	K562	blood:	n/a	n/a
2	POLR2A	chr15:78770910-78771225	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:78770581..78772645-chr15:78799903..78802215,2	MCF-7	breast:
2	chr15:78766300..78768930-chr15:78769580..78772946,4	K562	blood:
3	chr15:78732336..78734017-chr15:78769375..78771802,2	K562	blood:
4	chr15:78766300..78768486-chr15:78771126..78772946,2	K562	blood:

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

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11637193	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16969874	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16969883	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16969899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16969906	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2869048	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3743079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3817092	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57338032	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs57839482	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58766815	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61299530	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61388072	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72738715	0.80[EUR][1000 genomes]
rs72738729	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72738743	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72738757	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8036042	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[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
rs11634990	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	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:78750400-78773800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr15:78751000-78793200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:78754000-78789400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr15:78754400-78787600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr15:78754600-78771200	Strong transcription	HepG2	liver
8	chr15:78754600-78773600	Strong transcription	A549	lung
9	chr15:78754600-78793400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:78754800-78771600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr15:78754800-78793800	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr15:78755000-78772800	Strong transcription	Hela-S3	cervix
13	chr15:78755000-78787000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr15:78755000-78787000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr15:78755000-78793800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:78755000-78794400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr15:78755200-78772200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr15:78755200-78772600	Strong transcription	Primary B cells from cord blood	blood
19	chr15:78755200-78772600	Strong transcription	Osteobl	bone
20	chr15:78755200-78772800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr15:78755200-78773800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr15:78755200-78779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr15:78755200-78783800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr15:78755200-78787000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr15:78755200-78792600	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr15:78755200-78793400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr15:78755200-78793600	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr15:78755200-78793800	Strong transcription	Fetal Thymus	thymus
29	chr15:78755200-78794000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr15:78755200-78794600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:78755400-78772800	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr15:78755400-78779000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr15:78755400-78783200	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr15:78755400-78791400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr15:78755400-78791400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr15:78755400-78791800	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr15:78755400-78792600	Strong transcription	Fetal Muscle Leg	muscle
38	chr15:78755400-78793600	Strong transcription	Liver	Liver
39	chr15:78755600-78772200	Strong transcription	GM12878-XiMat	blood
40	chr15:78756000-78772800	Strong transcription	Placenta	Placenta
41	chr15:78756000-78773600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:78756000-78783600	Strong transcription	Stomach Smooth Muscle	stomach
43	chr15:78756000-78792800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr15:78756000-78793600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr15:78756400-78772600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr15:78756400-78772800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr15:78757000-78789600	Weak transcription	Stomach Mucosa	stomach
48	chr15:78757400-78772000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr15:78757800-78774400	Strong transcription	Adipose Nuclei	Adipose
50	chr15:78758400-78778200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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