Variant report

Variant	rs2869048
Chromosome Location	chr15:78747568-78747569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78728522..78731480-chr15:78746642..78749638,2	K562	blood:
2	chr15:78742068..78744487-chr15:78745696..78748456,2	K562	blood:
3	chr15:78742361..78745153-chr15:78747081..78749461,2	MCF-7	breast:
4	chr15:78735474..78739238-chr15:78747549..78750774,3	MCF-7	breast:
5	chr15:78727207..78732074-chr15:78744204..78747986,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136381	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	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]
rs11637193	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16969874	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16969883	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969899	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969906	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292116	1.00[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3743079	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817092	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57338032	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57839482	0.80[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	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72738715	0.80[EUR][1000 genomes]
rs72738729	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738743	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72738757	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8036042	0.83[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
rs2869048	IREB2	cis	Whole Blood	GTEx

Chromatin state (count:125 , 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	chr15:78732200-78747600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:78732200-78799400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr15:78732800-78758600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:78739200-78747600	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr15:78739200-78748400	Weak transcription	HSMM	muscle
8	chr15:78739200-78748800	Weak transcription	HUVEC	blood vessel
9	chr15:78739200-78749600	Weak transcription	HSMMtube	muscle
10	chr15:78739200-78755200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr15:78739400-78747600	Weak transcription	NHDF-Ad	bronchial
12	chr15:78739400-78747800	Weak transcription	Osteobl	bone
13	chr15:78739600-78755200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:78740400-78753200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr15:78740600-78748800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr15:78740600-78756000	Weak transcription	Brain Germinal Matrix	brain
17	chr15:78740800-78748200	Weak transcription	Fetal Muscle Trunk	muscle
18	chr15:78741000-78747600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr15:78741200-78755400	Weak transcription	Fetal Stomach	stomach
20	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr15:78742000-78747600	Weak transcription	Fetal Lung	lung
22	chr15:78742000-78749000	Weak transcription	NH-A	brain
23	chr15:78742000-78753000	Weak transcription	Dnd41	blood
24	chr15:78742000-78753400	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr15:78742200-78748200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr15:78742600-78750400	Weak transcription	HepG2	liver
27	chr15:78742800-78747600	Weak transcription	Brain Anterior Caudate	brain
28	chr15:78742800-78753200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:78743000-78747600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:78743000-78749200	Weak transcription	NHEK	skin
31	chr15:78743000-78751000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr15:78743000-78752800	Weak transcription	Brain Angular Gyrus	brain
33	chr15:78743200-78747600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr15:78743200-78755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr15:78743200-78755400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr15:78743200-78756000	Weak transcription	Placenta	Placenta
37	chr15:78743200-78756000	Weak transcription	HMEC	breast
38	chr15:78743200-78759800	Weak transcription	Esophagus	oesophagus
39	chr15:78743600-78748200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr15:78743600-78750000	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr15:78743600-78750400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr15:78743800-78754200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr15:78744000-78749800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr15:78744200-78749000	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr15:78744200-78750200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr15:78744600-78748000	Weak transcription	Fetal Brain Female	brain
47	chr15:78744600-78748800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr15:78744600-78750800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr15:78744600-78755400	Weak transcription	Thymus	Thymus
50	chr15:78744800-78749400	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links