Variant report

Variant	rs1115454
Chromosome Location	chr11:10239486-10239487
allele	C/T
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:65)

rs_ID	r²[population]
rs10500722	0.85[AFR][1000 genomes]
rs10500723	0.81[ASN][1000 genomes]
rs10500724	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10743131	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10743132	0.81[ASN][1000 genomes]
rs10743133	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10770105	0.81[ASN][1000 genomes]
rs10840379	0.81[ASN][1000 genomes]
rs10840381	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10840382	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs10840384	0.81[ASN][1000 genomes]
rs11042686	0.80[ASN][1000 genomes]
rs11042687	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042689	0.81[ASN][1000 genomes]
rs11042702	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042703	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11042714	0.82[ASN][1000 genomes]
rs11042716	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11042717	0.88[ASN][1000 genomes]
rs11607174	0.82[ASN][1000 genomes]
rs11607621	0.81[ASN][1000 genomes]
rs12279861	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12290748	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12418690	0.81[ASN][1000 genomes]
rs12419064	0.81[ASN][1000 genomes]
rs12419593	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16907615	0.81[ASN][1000 genomes]
rs2044143	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2044144	0.86[AFR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2083715	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2957671	0.81[ASN][1000 genomes]
rs2957674	0.81[ASN][1000 genomes]
rs2957699	0.81[ASN][1000 genomes]
rs34051776	0.82[ASN][1000 genomes]
rs34692066	0.82[ASN][1000 genomes]
rs35598338	0.81[ASN][1000 genomes]
rs35737881	0.82[ASN][1000 genomes]
rs36167833	0.81[ASN][1000 genomes]
rs36170347	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4442543	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs4597056	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs4910115	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55933041	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56063978	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57522724	0.82[ASN][1000 genomes]
rs61889798	0.81[ASN][1000 genomes]
rs6484147	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6484148	0.82[ASN][1000 genomes]
rs6484152	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs6484160	0.83[AFR][1000 genomes]
rs7107290	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7108358	0.82[ASN][1000 genomes]
rs7110652	0.82[ASN][1000 genomes]
rs7115142	0.90[ASN][1000 genomes]
rs7116147	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7118500	0.82[ASN][1000 genomes]
rs716803	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs726102	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7479039	0.81[EUR][1000 genomes]
rs7933018	0.81[ASN][1000 genomes]
rs7938543	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7947666	0.83[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7952105	0.82[ASN][1000 genomes]
rs7952229	0.81[ASN][1000 genomes]
rs9735682	0.82[AFR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1115454	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10219000-10242200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr11:10227400-10240000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:10227600-10240200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr11:10227800-10239800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr11:10227800-10240000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:10227800-10242600	Weak transcription	Esophagus	oesophagus
7	chr11:10229600-10240200	Weak transcription	Fetal Stomach	stomach
8	chr11:10230200-10240000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:10230200-10240000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:10230200-10240200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:10230200-10240600	Weak transcription	A549	lung
12	chr11:10230600-10246800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:10231000-10240000	Weak transcription	Dnd41	blood
14	chr11:10231000-10240200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:10231000-10254400	Weak transcription	NHDF-Ad	bronchial
16	chr11:10231000-10254400	Weak transcription	NHLF	lung
17	chr11:10231200-10240000	Weak transcription	Fetal Intestine Small	intestine
18	chr11:10231400-10240200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:10231800-10240400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:10235400-10263400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr11:10237000-10240000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr11:10237200-10240200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:10237800-10243400	Weak transcription	HepG2	liver
24	chr11:10238800-10240200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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