Variant report

Variant	rs2083717
Chromosome Location	chr11:10178135-10178136
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 142 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:138)

rs_ID	r²[population]
rs10160247	0.80[ASN][1000 genomes]
rs10160669	0.80[ASN][1000 genomes]
rs10160692	0.80[ASN][1000 genomes]
rs10500718	0.80[ASN][1000 genomes]
rs10500719	0.80[ASN][1000 genomes]
rs10500721	0.86[ASN][1000 genomes]
rs10500722	0.88[ASN][1000 genomes]
rs10500724	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10743131	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10743133	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10770085	0.87[EUR][1000 genomes]
rs10770096	0.91[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs10770104	0.81[EUR][1000 genomes]
rs10770105	0.89[ASN][1000 genomes]
rs10840381	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840382	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10840385	0.84[ASN][1000 genomes]
rs11042598	0.80[EUR][1000 genomes]
rs11042650	0.80[ASN][1000 genomes]
rs11042662	0.83[ASN][1000 genomes]
rs11042687	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042702	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042703	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042712	0.81[ASN][1000 genomes]
rs11042714	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11042716	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11042717	0.83[ASN][1000 genomes]
rs11042719	0.84[EUR][1000 genomes]
rs1135372	0.81[ASN][1000 genomes]
rs1135374	0.82[ASN][1000 genomes]
rs11602090	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11607174	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11821308	0.91[ASN][1000 genomes]
rs12279861	0.85[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12290748	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12293757	0.80[ASN][1000 genomes]
rs12419593	0.83[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12421666	0.85[ASN][1000 genomes]
rs13377397	0.80[ASN][1000 genomes]
rs1442738	0.81[EUR][1000 genomes]
rs16907496	0.82[ASN][1000 genomes]
rs16907498	0.82[ASN][1000 genomes]
rs16907500	0.82[ASN][1000 genomes]
rs16907503	0.82[ASN][1000 genomes]
rs16907504	0.82[ASN][1000 genomes]
rs16907509	0.82[ASN][1000 genomes]
rs16907515	0.80[ASN][1000 genomes]
rs16907519	0.80[ASN][1000 genomes]
rs16907527	0.80[ASN][1000 genomes]
rs16907528	0.80[ASN][1000 genomes]
rs16907533	0.80[ASN][1000 genomes]
rs1812853	0.87[ASN][1000 genomes]
rs2028575	0.80[ASN][1000 genomes]
rs2028576	0.80[ASN][1000 genomes]
rs2028577	0.80[ASN][1000 genomes]
rs2028578	0.80[ASN][1000 genomes]
rs2044143	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2044144	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2083715	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2083716	0.82[EUR][1000 genomes]
rs2278628	0.80[ASN][1000 genomes]
rs2278630	0.80[ASN][1000 genomes]
rs2278632	0.80[ASN][1000 genomes]
rs2278633	0.80[ASN][1000 genomes]
rs2278634	0.86[ASN][1000 genomes]
rs2920147	0.84[ASN][1000 genomes]
rs3178898	0.82[ASN][1000 genomes]
rs34051776	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34087225	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34124136	0.81[ASN][1000 genomes]
rs34692066	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34739790	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35737881	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs36167833	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs36170347	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4267063	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4323860	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4418806	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4442543	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4482025	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4543988	0.80[ASN][1000 genomes]
rs4597056	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4622247	0.80[ASN][1000 genomes]
rs4910097	0.87[EUR][1000 genomes]
rs4910107	0.82[EUR][1000 genomes]
rs4910108	0.82[EUR][1000 genomes]
rs4910115	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55893317	0.89[ASN][1000 genomes]
rs55933041	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56063978	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56319831	0.91[ASN][1000 genomes]
rs56758314	0.89[ASN][1000 genomes]
rs56776911	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57761181	0.91[ASN][1000 genomes]
rs58054521	0.91[ASN][1000 genomes]
rs59829967	0.89[ASN][1000 genomes]
rs59901009	0.91[ASN][1000 genomes]
rs60578195	0.80[ASN][1000 genomes]
rs61149838	0.80[ASN][1000 genomes]
rs61877260	0.91[ASN][1000 genomes]
rs61878638	0.91[ASN][1000 genomes]
rs61889955	0.88[ASN][1000 genomes]
rs6484012	0.80[ASN][1000 genomes]
rs6484147	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484148	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484152	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484160	0.82[EUR][1000 genomes]
rs7102016	0.88[EUR][1000 genomes]
rs7106998	0.83[EUR][1000 genomes]
rs7107040	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7107290	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7107399	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7107951	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7108358	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7110652	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7111724	0.82[ASN][1000 genomes]
rs7115944	0.81[EUR][1000 genomes]
rs7116147	0.85[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7118500	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7123728	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7129531	0.91[ASN][1000 genomes]
rs716803	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs726102	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73412899	0.82[ASN][1000 genomes]
rs73415015	0.82[ASN][1000 genomes]
rs7479039	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7924499	0.91[EUR][1000 genomes]
rs7924631	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7928170	0.90[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7938543	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7942420	0.88[EUR][1000 genomes]
rs7945930	0.83[EUR][1000 genomes]
rs7947588	0.89[EUR][1000 genomes]
rs7947666	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7950140	0.90[EUR][1000 genomes]
rs7950461	0.83[EUR][1000 genomes]
rs7952105	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9735682	0.83[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	nsv430319	chr11:10027543-10711224	Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv1039636	chr11:10126747-10280570	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1036041	chr11:10131018-10212202	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv975150	chr11:10174580-10182242	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2083717	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10170600-10189000	Weak transcription	Left Ventricle	heart
2	chr11:10176200-10184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr11:10177400-10178200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:10177400-10178200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:10177400-10178200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr11:10177400-10178400	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:10177400-10178800	Enhancers	Psoas Muscle	Psoas
8	chr11:10177600-10178200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:10177600-10178200	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
10	chr11:10177600-10178200	Enhancers	Placenta	Placenta
11	chr11:10177600-10178400	ZNF genes & repeats	Fetal Stomach	stomach
12	chr11:10177800-10178200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:10177800-10178200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr11:10177800-10178200	Enhancers	Hela-S3	cervix
15	chr11:10177800-10178200	ZNF genes & repeats	NHLF	lung
16	chr11:10177800-10183200	Weak transcription	Ovary	ovary
17	chr11:10177800-10183800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr11:10178000-10178200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
19	chr11:10178000-10178200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr11:10178000-10178200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:10178000-10182200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:10178000-10182200	Weak transcription	HMEC	breast
23	chr11:10178000-10183600	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links