Variant report

Variant	rs8092781
Chromosome Location	chr18:7947197-7947198
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10153443	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12326176	0.86[EUR][1000 genomes]
rs12326185	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12954431	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12956961	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs12957388	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12957993	0.93[CEU][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.91[EUR][1000 genomes]
rs12959314	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12960276	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12963759	0.90[EUR][1000 genomes]
rs12966777	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12968232	0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13381485	0.86[EUR][1000 genomes]
rs16952705	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16952722	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28434244	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34017251	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34046553	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34049036	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34296167	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34554615	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34580701	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35308699	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35434291	0.86[EUR][1000 genomes]
rs35521625	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35558945	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35822807	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35830277	0.87[EUR][1000 genomes]
rs36093720	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7239786	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs7240582	0.86[EUR][1000 genomes]
rs8087770	0.86[EUR][1000 genomes]
rs8087884	0.93[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8089133	0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9807495	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9952741	0.87[CEU][hapmap];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9956981	0.86[EUR][1000 genomes]
rs9961079	0.93[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8092781	NAPG	cis	parietal	SCAN
rs8092781	BOK	trans	cerebellum	SCAN

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7932200-7961000	Weak transcription	HepG2	liver
2	chr18:7937600-7949200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:7937600-7955200	Weak transcription	Fetal Muscle Trunk	muscle
4	chr18:7941400-7955000	Weak transcription	Psoas Muscle	Psoas
5	chr18:7941800-7966400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr18:7942000-7955200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr18:7942200-7955200	Weak transcription	Fetal Muscle Leg	muscle
9	chr18:7945400-7948000	Enhancers	Small Intestine	intestine
10	chr18:7945600-7947200	Enhancers	Colon Smooth Muscle	Colon
11	chr18:7945600-7947200	Enhancers	Fetal Stomach	stomach
12	chr18:7945600-7947800	Enhancers	HUVEC	blood vessel
13	chr18:7945600-7950400	Weak transcription	Left Ventricle	heart
14	chr18:7945800-7947200	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr18:7945800-7947200	Enhancers	Stomach Mucosa	stomach
16	chr18:7945800-7947800	Enhancers	Right Ventricle	heart
17	chr18:7946000-7948000	Enhancers	Pancreas	Pancrea
18	chr18:7946200-7947200	Flanking Active TSS	NHDF-Ad	bronchial
19	chr18:7946200-7947400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr18:7946200-7947400	Flanking Active TSS	Osteobl	bone
21	chr18:7946200-7947800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr18:7946200-7958200	Weak transcription	Aorta	Aorta
23	chr18:7946400-7947200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
24	chr18:7946400-7947400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr18:7946400-7947400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr18:7946400-7947400	Active TSS	Brain Cingulate Gyrus	brain
27	chr18:7946400-7947400	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr18:7946400-7947400	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr18:7946400-7948000	Flanking Active TSS	A549	lung
30	chr18:7946600-7947200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:7946600-7947200	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr18:7946600-7947200	Enhancers	Fetal Heart	heart
33	chr18:7946600-7947200	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr18:7946600-7947400	Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr18:7946600-7947400	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr18:7946600-7947400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr18:7946600-7947400	Active TSS	Brain Substantia Nigra	brain
38	chr18:7946600-7947600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
39	chr18:7946600-7947600	Flanking Active TSS	Hela-S3	cervix
40	chr18:7946600-7947600	Flanking Active TSS	HMEC	breast
41	chr18:7946600-7947800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr18:7946600-7947800	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr18:7946800-7947200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:7946800-7947200	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr18:7946800-7947200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr18:7946800-7947200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr18:7946800-7947200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr18:7946800-7947200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr18:7946800-7947200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr18:7946800-7947200	Active TSS	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links