Variant report

Variant	rs11786451
Chromosome Location	chr8:95897031-95897032
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-INTS8-2	chr8:95896837-95897298	ENSG00000272509.1

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10956927	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11775475	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11775899	0.80[EUR][1000 genomes]
rs11776131	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11776489	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11776687	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11777132	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11777353	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11778250	0.82[EUR][1000 genomes]
rs11779041	0.80[EUR][1000 genomes]
rs11779252	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11781429	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11781712	0.93[EUR][1000 genomes]
rs11781843	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11782617	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11783522	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11783589	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11783941	0.80[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs11784299	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11786088	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11786389	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11786429	0.92[EUR][1000 genomes]
rs11787377	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12056517	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12056808	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16893774	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16917079	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16917081	0.80[EUR][1000 genomes]
rs16917082	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16917093	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs16917102	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16917106	0.83[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs16917117	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17359493	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28399553	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399563	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28399571	0.80[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073916	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4075834	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4345531	0.80[EUR][1000 genomes]
rs4355737	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57063661	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57773845	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58489999	0.90[EUR][1000 genomes]
rs58675831	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59091366	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59265059	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59521030	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60171840	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6986418	0.80[EUR][1000 genomes]
rs6989591	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7009940	0.84[AFR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs716733	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs73269170	0.80[EUR][1000 genomes]
rs73269188	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73269191	0.80[EUR][1000 genomes]
rs73269198	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73269199	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73271148	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73271178	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7834966	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised 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	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv891203	chr8:95883232-95948202	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv891204	chr8:95883232-95965135	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11786451	INTS8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95837000-95905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:95837400-95898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr8:95838200-95905600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:95839400-95904400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:95870200-95905200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:95870600-95905600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:95873800-95898800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr8:95874200-95897600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
9	chr8:95874200-95899000	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr8:95874400-95902600	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr8:95874400-95904600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr8:95875600-95904400	Strong transcription	Fetal Thymus	thymus
13	chr8:95876200-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr8:95876200-95906600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr8:95876800-95899600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:95877000-95899200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr8:95879000-95898000	Weak transcription	Right Ventricle	heart
18	chr8:95879200-95906600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr8:95881200-95898000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:95881200-95905800	Weak transcription	Spleen	Spleen
21	chr8:95882200-95906600	Weak transcription	Gastric	stomach
22	chr8:95883400-95905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr8:95883600-95905600	Weak transcription	Small Intestine	intestine
24	chr8:95883800-95899200	Strong transcription	NHDF-Ad	bronchial
25	chr8:95884400-95898200	Strong transcription	Dnd41	blood
26	chr8:95885000-95899400	Strong transcription	K562	blood
27	chr8:95885400-95898800	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr8:95886000-95898400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr8:95886000-95905600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:95886000-95906400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:95886800-95899200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:95887200-95899200	Strong transcription	Osteobl	bone
33	chr8:95887200-95904600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr8:95887600-95906200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:95888200-95906600	Weak transcription	Ovary	ovary
36	chr8:95888600-95899200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:95889800-95898800	Strong transcription	Hela-S3	cervix
38	chr8:95890000-95906200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:95890200-95906600	Weak transcription	Lung	lung
40	chr8:95890600-95898600	Weak transcription	Pancreas	Pancrea
41	chr8:95890600-95906800	Weak transcription	Aorta	Aorta
42	chr8:95890800-95898000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr8:95890800-95898200	Weak transcription	Colonic Mucosa	Colon
44	chr8:95890800-95905800	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr8:95890800-95905800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr8:95890800-95905800	Weak transcription	Psoas Muscle	Psoas
47	chr8:95891000-95906600	Weak transcription	Left Ventricle	heart
48	chr8:95891400-95905400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr8:95891400-95905600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:95891600-95904800	Weak transcription	Fetal Heart	heart

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