Variant report

Variant	rs11748503
Chromosome Location	chr5:112674858-112674859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs10077020	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10428666	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10519343	0.92[EUR][1000 genomes]
rs10519346	0.92[EUR][1000 genomes]
rs1116547	0.81[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11241197	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11241201	0.96[ASN][1000 genomes]
rs11241206	0.96[ASN][1000 genomes]
rs11241209	0.86[ASN][1000 genomes]
rs11738075	0.96[ASN][1000 genomes]
rs11738215	0.96[ASN][1000 genomes]
rs11740190	0.92[EUR][1000 genomes]
rs11740233	0.92[EUR][1000 genomes]
rs11740318	0.92[EUR][1000 genomes]
rs11740353	0.92[EUR][1000 genomes]
rs11740443	0.92[EUR][1000 genomes]
rs11741794	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11741916	0.83[ASN][1000 genomes]
rs11741937	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11746532	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11746791	0.92[EUR][1000 genomes]
rs11748058	0.92[EUR][1000 genomes]
rs11748465	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11748524	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11749864	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12152879	0.90[ASN][1000 genomes]
rs12186466	0.89[EUR][1000 genomes]
rs12188069	0.89[EUR][1000 genomes]
rs12188070	0.89[EUR][1000 genomes]
rs12188230	0.92[EUR][1000 genomes]
rs12514091	0.88[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12519753	0.96[ASN][1000 genomes]
rs12520003	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12521391	0.84[EUR][1000 genomes]
rs12522683	0.84[EUR][1000 genomes]
rs12522862	0.84[EUR][1000 genomes]
rs12523027	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12523255	0.96[ASN][1000 genomes]
rs12523284	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13360719	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1443683	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1517209	0.96[ASN][1000 genomes]
rs1586943	0.96[ASN][1000 genomes]
rs17135454	0.84[EUR][1000 genomes]
rs17135463	0.84[EUR][1000 genomes]
rs17135506	0.92[EUR][1000 genomes]
rs17135507	0.92[EUR][1000 genomes]
rs17135514	0.92[EUR][1000 genomes]
rs17135515	0.92[EUR][1000 genomes]
rs17135517	0.92[EUR][1000 genomes]
rs17135519	0.92[EUR][1000 genomes]
rs17135520	0.92[EUR][1000 genomes]
rs17135526	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135531	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17135546	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17135597	0.96[ASN][1000 genomes]
rs17135608	0.94[ASN][1000 genomes]
rs17135616	0.90[ASN][1000 genomes]
rs17164185	0.84[EUR][1000 genomes]
rs1838208	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1845289	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1850410	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2068923	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs34271294	0.81[EUR][1000 genomes]
rs4632792	0.92[EUR][1000 genomes]
rs4705549	0.84[EUR][1000 genomes]
rs4705810	0.92[EUR][1000 genomes]
rs4705814	0.96[ASN][1000 genomes]
rs4705817	0.96[ASN][1000 genomes]
rs4705818	0.94[ASN][1000 genomes]
rs4705819	0.94[ASN][1000 genomes]
rs56294433	0.81[EUR][1000 genomes]
rs60437559	0.92[EUR][1000 genomes]
rs62374372	0.94[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6594695	0.92[EUR][1000 genomes]
rs6594696	0.92[EUR][1000 genomes]
rs6594697	0.92[EUR][1000 genomes]
rs66728961	0.96[ASN][1000 genomes]
rs67303814	0.90[ASN][1000 genomes]
rs67764628	0.92[ASN][1000 genomes]
rs6861786	0.82[ASN][1000 genomes]
rs6864528	0.94[ASN][1000 genomes]
rs6877524	0.90[ASN][1000 genomes]
rs6879761	0.84[EUR][1000 genomes]
rs6882900	0.82[ASN][1000 genomes]
rs73236478	0.94[ASN][1000 genomes]
rs73236479	0.90[ASN][1000 genomes]
rs73244759	0.84[EUR][1000 genomes]
rs73244767	0.89[EUR][1000 genomes]
rs73244770	0.89[EUR][1000 genomes]
rs73244772	0.85[EUR][1000 genomes]
rs73246604	0.92[EUR][1000 genomes]
rs73246629	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73246681	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7703865	0.84[EUR][1000 genomes]
rs7707443	0.82[ASN][1000 genomes]
rs9800316	0.96[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	nsv599396	chr5:112408944-112853189	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv882719	chr5:112568212-112706511	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv1024747	chr5:112592710-112679373	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv949165	chr5:112615626-112730216	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112666800-112678600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:112667000-112681000	Weak transcription	Esophagus	oesophagus
3	chr5:112667200-112678800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr5:112667200-112678800	Weak transcription	HMEC	breast
5	chr5:112667200-112680400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr5:112667200-112680600	Weak transcription	NHEK	skin
7	chr5:112667200-112680800	Weak transcription	Right Ventricle	heart
8	chr5:112667200-112681000	Weak transcription	Pancreas	Pancrea
9	chr5:112667200-112693400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr5:112671400-112676400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr5:112672800-112675000	Enhancers	Ovary	ovary
12	chr5:112673000-112676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr5:112673200-112675000	Enhancers	Muscle Satellite Cultured Cells	--
14	chr5:112673200-112676800	Weak transcription	Fetal Stomach	stomach
15	chr5:112673200-112678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr5:112673800-112675400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr5:112674200-112676000	Enhancers	Fetal Heart	heart
18	chr5:112674200-112676200	Weak transcription	Left Ventricle	heart
19	chr5:112674400-112676200	Weak transcription	Right Atrium	heart
20	chr5:112674600-112678800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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