Variant report

Variant	rs7816040
Chromosome Location	chr8:11813909-11813910
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11250184	0.91[ASN][1000 genomes]
rs12544625	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12550278	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13267552	0.91[ASN][1000 genomes]
rs34175831	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34308791	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35673043	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3934746	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3934747	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4074928	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4240679	0.96[ASN][1000 genomes]
rs4240680	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4240681	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4358840	0.93[ASN][1000 genomes]
rs4373556	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4469501	0.80[ASN][1000 genomes]
rs4537264	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4612303	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4624991	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4840600	0.94[ASN][1000 genomes]
rs4841653	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4841655	0.95[ASN][1000 genomes]
rs4841656	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4841657	0.86[ASN][1000 genomes]
rs4841658	0.80[ASN][1000 genomes]
rs55948700	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56051831	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56092014	0.98[ASN][1000 genomes]
rs58120446	0.84[ASN][1000 genomes]
rs58637143	0.85[ASN][1000 genomes]
rs58707583	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601636	0.96[ASN][1000 genomes]
rs6601637	0.96[ASN][1000 genomes]
rs6601638	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7837383	0.95[ASN][1000 genomes]
rs7842179	0.96[ASN][1000 genomes]
rs9644758	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9650664	0.86[ASN][1000 genomes]
rs9693477	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv890366	chr8:11666451-11900847	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1018042	chr8:11667496-11882385	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv890369	chr8:11671041-11840011	Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1016952	chr8:11679271-11849955	Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv1029093	chr8:11679271-11858466	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv539478	chr8:11679271-11858466	Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv610293	chr8:11698747-11929734	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
12	nsv516685	chr8:11698747-12570199	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
13	nsv1029694	chr8:11727357-11858466	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
14	esv2758148	chr8:11741558-12567301	ZNF genes & repeats Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
15	nsv427815	chr8:11741558-12567301	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
16	nsv428195	chr8:11741558-12567301	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	70 gene(s)	inside rSNPs	diseases
17	esv2759593	chr8:11741558-12601971	Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
18	nsv1029934	chr8:11747133-11858466	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1016332	chr8:11751798-11861797	Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
20	nsv1016544	chr8:11754663-11849955	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
21	nsv539482	chr8:11754663-11849955	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
22	nsv890370	chr8:11755513-11900847	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv491752	chr8:11758865-12467543	Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
24	nsv890371	chr8:11771089-11896831	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
25	nsv1026344	chr8:11786255-11897177	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
26	nsv1019536	chr8:11788237-11828263	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
27	nsv1019489	chr8:11802328-11858466	Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv917210	chr8:11805761-12404066	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7816040	PPP1R3B	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11812200-11814200	Enhancers	Fetal Heart	heart
2	chr8:11812600-11814400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr8:11812800-11814000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr8:11812800-11814000	Enhancers	Fetal Lung	lung
5	chr8:11812800-11814600	Enhancers	Liver	Liver
6	chr8:11813000-11814000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:11813000-11814000	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:11813000-11814000	Enhancers	NHLF	lung
9	chr8:11813000-11814200	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:11813200-11815400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr8:11813400-11814000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr8:11813400-11814000	Enhancers	H1 Cell Line	embryonic stem cell
13	chr8:11813400-11814000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:11813400-11814000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:11813400-11814000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr8:11813400-11814000	Enhancers	Adipose Nuclei	Adipose
17	chr8:11813400-11814000	Enhancers	Brain Cingulate Gyrus	brain
18	chr8:11813400-11814000	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr8:11813400-11814000	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr8:11813400-11814200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr8:11813400-11814200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
22	chr8:11813400-11814200	Enhancers	Colon Smooth Muscle	Colon
23	chr8:11813400-11814400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr8:11813400-11815200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr8:11813400-11815400	Enhancers	Fetal Stomach	stomach
26	chr8:11813400-11816200	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr8:11813600-11814000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr8:11813600-11814000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
29	chr8:11813600-11814000	Enhancers	Fetal Kidney	kidney
30	chr8:11813600-11814000	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr8:11813600-11814200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
32	chr8:11813600-11815000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:11813600-11815000	Enhancers	Ovary	ovary
34	chr8:11813800-11814000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr8:11813800-11814000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:11813800-11814000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr8:11813800-11814000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr8:11813800-11814000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr8:11813800-11814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr8:11813800-11814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr8:11813800-11814000	Enhancers	Brain Anterior Caudate	brain
42	chr8:11813800-11814000	Enhancers	A549	lung
43	chr8:11813800-11814200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
44	chr8:11813800-11814200	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr8:11813800-11814200	Enhancers	Brain Hippocampus Middle	brain
46	chr8:11813800-11814200	Enhancers	Brain Substantia Nigra	brain
47	chr8:11813800-11814200	Enhancers	Rectal Smooth Muscle	rectum
48	chr8:11813800-11814200	Enhancers	HepG2	liver
49	chr8:11813800-11815000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr8:11813800-11815200	Weak transcription	Spleen	Spleen

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