Variant report

Variant	rs7016760
Chromosome Location	chr8:10916523-10916524
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10096332	0.92[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.85[CHD][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.91[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10111974	0.91[CEU][hapmap];0.82[CHB][hapmap];0.95[MEX][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11250113	0.84[CHB][hapmap];0.92[CHD][hapmap]
rs11775350	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11781155	0.88[ASN][1000 genomes]
rs13251510	0.97[ASN][1000 genomes]
rs28447601	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56078888	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6601552	0.81[CEU][hapmap];0.82[CHB][hapmap]
rs6601553	0.85[CEU][hapmap];0.82[CHB][hapmap];0.81[EUR][1000 genomes]
rs6601554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6983301	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6993779	0.81[CEU][hapmap];0.83[CHB][hapmap]
rs6997523	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7016414	0.98[ASN][1000 genomes]
rs7462014	0.91[CHB][hapmap]
rs7815958	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7821584	0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs7839902	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[GIH][hapmap];0.87[JPT][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes];0.90[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	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1022434	chr8:10866242-10916523	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	esv3443449	chr8:10915967-10918515	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7016760	DEFB136	cis	parietal	SCAN
rs7016760	SNORD45A	trans	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:10913600-10916600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:10913600-10916600	Weak transcription	Lung	lung
3	chr8:10915200-10916600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:10915200-10916600	Weak transcription	Gastric	stomach
5	chr8:10916200-10917400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr8:10916400-10916600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr8:10916400-10916600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
8	chr8:10916400-10916600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:10916400-10916600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
10	chr8:10916400-10916600	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
11	chr8:10916400-10916600	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr8:10916400-10916600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:10916400-10916600	Enhancers	Muscle Satellite Cultured Cells	--
14	chr8:10916400-10916600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
15	chr8:10916400-10916600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:10916400-10916600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr8:10916400-10916600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:10916400-10916600	Enhancers	Brain Cingulate Gyrus	brain
19	chr8:10916400-10916600	Enhancers	Brain Hippocampus Middle	brain
20	chr8:10916400-10916600	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr8:10916400-10916600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr8:10916400-10916600	Bivalent Enhancer	Fetal Muscle Leg	muscle
23	chr8:10916400-10916600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr8:10916400-10916600	Enhancers	Pancreas	Pancrea
25	chr8:10916400-10916600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
26	chr8:10916400-10916600	Bivalent/Poised TSS	Stomach Mucosa	stomach
27	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr8:10916400-10916800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:10916400-10916800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
31	chr8:10916400-10916800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr8:10916400-10916800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr8:10916400-10916800	Flanking Active TSS	Brain Germinal Matrix	brain
34	chr8:10916400-10916800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
35	chr8:10916400-10916800	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
36	chr8:10916400-10916800	Enhancers	Fetal Heart	heart
37	chr8:10916400-10916800	Flanking Active TSS	HSMMtube	muscle
38	chr8:10916400-10917000	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
40	chr8:10916400-10917000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:10916400-10917000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
42	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr8:10916400-10917000	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
46	chr8:10916400-10917000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr8:10916400-10917200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr8:10916400-10917200	Active TSS	HSMM	muscle
49	chr8:10916400-10917400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:10916400-10917400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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