Variant report

Variant	rs4243218
Chromosome Location	chr16:81900628-81900629
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10871423	0.83[ASN][1000 genomes]
rs11150420	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11150421	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12102309	0.80[ASN][1000 genomes]
rs12445580	0.81[ASN][1000 genomes]
rs12716921	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs12716922	0.82[CHB][hapmap];0.84[MEX][hapmap]
rs12918486	0.95[CHB][hapmap];0.87[ASN][1000 genomes]
rs12923507	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13330054	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3934985	0.84[ASN][1000 genomes]
rs3935876	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4889420	0.81[ASN][1000 genomes]
rs4889421	1.00[CEU][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4997770	0.80[ASN][1000 genomes]
rs4997771	0.87[CHB][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs4997772	0.86[CHB][hapmap];0.80[ASN][1000 genomes]
rs4997773	0.80[ASN][1000 genomes]
rs4997775	0.80[ASN][1000 genomes]
rs55822905	0.80[ASN][1000 genomes]
rs7184247	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7187163	0.80[ASN][1000 genomes]
rs7187837	0.80[ASN][1000 genomes]
rs7189106	0.87[ASN][1000 genomes]
rs7189843	1.00[CEU][hapmap];0.83[CHB][hapmap];0.90[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7192509	0.80[ASN][1000 genomes]
rs7192535	0.87[CHB][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs7193967	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7195281	0.81[ASN][1000 genomes]
rs7196410	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7197677	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7197685	0.80[ASN][1000 genomes]
rs7197689	0.80[CHB][hapmap];0.80[ASN][1000 genomes]
rs7197832	0.82[CHB][hapmap]
rs7198813	0.80[ASN][1000 genomes]
rs7199578	0.87[CHB][hapmap];0.84[MEX][hapmap];0.80[ASN][1000 genomes]
rs7199941	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs7200324	0.80[ASN][1000 genomes]
rs7200783	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7202250	0.81[ASN][1000 genomes]
rs7342694	0.87[CHB][hapmap];0.84[MEX][hapmap];0.81[ASN][1000 genomes]
rs8058099	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8058287	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8058290	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8058331	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9923780	0.80[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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv1065088	chr16:81878481-81953248	Enhancers ZNF genes & repeats Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4243218	VAT1L	cis	parietal	SCAN

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81876200-81918200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:81880000-81911200	Weak transcription	Pancreas	Pancrea
3	chr16:81880400-81908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:81887600-81901800	Weak transcription	Fetal Kidney	kidney
5	chr16:81894800-81912400	Weak transcription	Fetal Intestine Small	intestine
6	chr16:81895800-81902600	Genic enhancers	Primary B cells from peripheral blood	blood
7	chr16:81896000-81900800	Weak transcription	Esophagus	oesophagus
8	chr16:81896400-81902400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr16:81896800-81910400	Weak transcription	Gastric	stomach
10	chr16:81897400-81901800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:81897600-81902000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:81897600-81902200	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:81897600-81902600	Genic enhancers	GM12878-XiMat	blood
14	chr16:81898600-81901200	Enhancers	Lung	lung
15	chr16:81898800-81907400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr16:81898800-81912400	Weak transcription	Duodenum Mucosa	Duodenum
17	chr16:81899000-81901600	Weak transcription	Right Ventricle	heart
18	chr16:81899000-81902000	Enhancers	Spleen	Spleen
19	chr16:81899000-81904000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:81899000-81934600	Weak transcription	Right Atrium	heart
21	chr16:81899600-81901200	Enhancers	Adipose Nuclei	Adipose
22	chr16:81899600-81901400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr16:81899800-81901200	Enhancers	Primary monocytes fromperipheralblood	blood
24	chr16:81899800-81901400	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr16:81900000-81901000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr16:81900000-81901200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr16:81900000-81901200	Enhancers	Placenta	Placenta
28	chr16:81900000-81904400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr16:81900200-81900800	Enhancers	Colonic Mucosa	Colon
30	chr16:81900200-81901200	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr16:81900400-81900800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:81900400-81900800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
33	chr16:81900400-81900800	Enhancers	Left Ventricle	heart
34	chr16:81900400-81900800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
35	chr16:81900400-81901000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr16:81900400-81901000	Enhancers	Liver	Liver
37	chr16:81900400-81901000	Enhancers	Brain Substantia Nigra	brain
38	chr16:81900400-81901200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
39	chr16:81900400-81901200	Enhancers	Fetal Thymus	thymus
40	chr16:81900400-81901200	Enhancers	HMEC	breast
41	chr16:81900400-81904800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr16:81900600-81901000	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr16:81900600-81901000	Flanking Active TSS	HUVEC	blood vessel
44	chr16:81900600-81901200	Enhancers	Thymus	Thymus

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