Variant report

Variant	rs11042598
Chromosome Location	chr11:10066878-10066879
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10770080	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10770082	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10770083	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10770084	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10770085	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10770096	0.85[EUR][1000 genomes]
rs10840339	0.85[AMR][1000 genomes]
rs10840342	0.87[AMR][1000 genomes]
rs10840346	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10840349	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10840353	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10840354	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10840357	0.83[AFR][1000 genomes]
rs10840358	0.85[AFR][1000 genomes]
rs10840363	0.80[AFR][1000 genomes]
rs11042581	0.85[AMR][1000 genomes]
rs11042582	0.85[AMR][1000 genomes]
rs11042638	0.80[AFR][1000 genomes]
rs11600852	0.87[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs12288355	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12295754	0.85[AMR][1000 genomes]
rs12360854	0.90[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2083717	0.80[EUR][1000 genomes]
rs2403230	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2403259	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2403264	0.93[ASN][1000 genomes]
rs2403265	0.89[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2403268	0.82[EUR][1000 genomes]
rs4284389	0.89[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4309158	0.85[AMR][1000 genomes]
rs4316505	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4323860	0.83[EUR][1000 genomes]
rs4350354	0.86[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs4909918	0.85[AMR][1000 genomes]
rs58623593	0.85[AFR][1000 genomes]
rs6483883	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6483964	0.86[AFR][1000 genomes]
rs6483965	0.83[AFR][1000 genomes]
rs7102016	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7104821	0.86[AFR][1000 genomes]
rs7106328	0.82[AFR][1000 genomes]
rs7106491	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7110664	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7119000	0.86[AFR][1000 genomes]
rs7121704	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs7123728	0.82[EUR][1000 genomes]
rs7126376	0.93[ASN][1000 genomes]
rs7128591	0.88[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7128698	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7129239	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7924499	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7928170	0.85[EUR][1000 genomes]
rs7932988	0.86[AFR][1000 genomes]
rs7939146	0.85[AFR][1000 genomes]
rs7942420	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7947588	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7948166	0.85[AFR][1000 genomes]
rs7950140	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7950240	0.87[AFR][1000 genomes];0.81[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	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv553476	chr11:10024311-10117435	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11042598	RP11-351I24.1	cis	Whole Blood	GTEx

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:10065000-10067000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:10065200-10067800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:10065400-10067000	ZNF genes & repeats	A549	lung
4	chr11:10065800-10067000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr11:10065800-10067200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
6	chr11:10066000-10067000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:10066000-10067000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:10066000-10067000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:10066000-10067000	ZNF genes & repeats	Liver	Liver
10	chr11:10066000-10067000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
11	chr11:10066000-10067800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:10066600-10067200	Weak transcription	Pancreas	Pancrea
13	chr11:10066600-10069000	Weak transcription	Hela-S3	cervix
14	chr11:10066600-10073600	Weak transcription	NHLF	lung
15	chr11:10066600-10073800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:10066600-10078600	Weak transcription	Aorta	Aorta
17	chr11:10066800-10067000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:10066800-10072000	Weak transcription	Osteobl	bone
19	chr11:10066800-10073600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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