Variant report

Variant	rs16969874
Chromosome Location	chr15:78754863-78754864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:78730825..78732581-chr15:78754139..78756670,3	K562	blood:
2	chr15:78732279..78734656-chr15:78753816..78756332,3	MCF-7	breast:
3	chr15:78728558..78732848-chr15:78754139..78757790,4	K562	blood:
4	chr15:78730050..78732098-chr15:78751945..78754976,3	MCF-7	breast:
5	chr15:78753474..78756837-chr15:78765952..78769081,5	K562	blood:

Variant related genes	Relation type
ENSG00000136381	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11634990	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11637193	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16969883	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969899	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16969906	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2292116	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2869048	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3743079	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3817092	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57338032	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs57839482	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58766815	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61299530	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61388072	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72738715	0.80[EUR][1000 genomes]
rs72738729	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72738743	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72738757	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8036042	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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
rs16969874	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	chr15:78731600-78756400	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	chr15:78740600-78756000	Weak transcription	Brain Germinal Matrix	brain
8	chr15:78741200-78755400	Weak transcription	Fetal Stomach	stomach
9	chr15:78741200-78781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr15:78743200-78755400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr15:78743200-78755400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:78743200-78756000	Weak transcription	Placenta	Placenta
13	chr15:78743200-78756000	Weak transcription	HMEC	breast
14	chr15:78743200-78759800	Weak transcription	Esophagus	oesophagus
15	chr15:78744600-78755400	Weak transcription	Thymus	Thymus
16	chr15:78748400-78756400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:78748600-78756800	Weak transcription	Colonic Mucosa	Colon
18	chr15:78748800-78756000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr15:78748800-78757000	Weak transcription	Fetal Heart	heart
20	chr15:78749000-78755200	Weak transcription	Fetal Thymus	thymus
21	chr15:78749000-78755400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr15:78749000-78755400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr15:78749000-78755400	Weak transcription	Fetal Muscle Leg	muscle
24	chr15:78749000-78755400	Weak transcription	Left Ventricle	heart
25	chr15:78749000-78755400	Weak transcription	Spleen	Spleen
26	chr15:78749000-78756000	Weak transcription	Lung	lung
27	chr15:78749000-78756200	Weak transcription	Fetal Brain Male	brain
28	chr15:78749000-78757000	Weak transcription	Gastric	stomach
29	chr15:78749000-78758600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr15:78749000-78764800	Weak transcription	Pancreas	Pancrea
31	chr15:78749000-78767800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr15:78749600-78755400	Weak transcription	HUVEC	blood vessel
33	chr15:78749800-78755400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:78749800-78755400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:78749800-78755400	Weak transcription	Fetal Intestine Small	intestine
36	chr15:78749800-78756000	Weak transcription	NH-A	brain
37	chr15:78749800-78756000	Weak transcription	NHEK	skin
38	chr15:78749800-78764600	Weak transcription	Small Intestine	intestine
39	chr15:78749800-78769600	Weak transcription	Right Ventricle	heart
40	chr15:78750000-78755800	Weak transcription	NHLF	lung
41	chr15:78750000-78756400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr15:78750200-78755200	Weak transcription	HSMMtube	muscle
43	chr15:78750400-78755400	Weak transcription	Fetal Lung	lung
44	chr15:78750400-78773800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr15:78750600-78755200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr15:78751000-78756000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr15:78751000-78793200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr15:78751200-78755800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr15:78751200-78756200	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:78751400-78755200	Weak transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links