Variant report

Variant	rs1850410
Chromosome Location	chr5:112675701-112675702
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 149 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:145)

rs_ID	r²[population]
rs10042223	0.86[YRI][hapmap]
rs10051834	0.89[YRI][hapmap]
rs10062004	0.85[YRI][hapmap]
rs10074214	0.88[YRI][hapmap]
rs10077020	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10428666	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10519343	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs10519346	0.97[EUR][1000 genomes]
rs10900685	0.86[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs1116547	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11241197	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11241201	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11241206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11241209	0.90[ASN][1000 genomes]
rs11738075	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11738215	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11740190	0.97[EUR][1000 genomes]
rs11740233	0.97[EUR][1000 genomes]
rs11740318	0.97[EUR][1000 genomes]
rs11740353	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11740443	0.97[EUR][1000 genomes]
rs11741794	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11741916	0.87[ASN][1000 genomes]
rs11741937	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11741963	0.81[AMR][1000 genomes]
rs11746532	0.97[EUR][1000 genomes]
rs11746791	0.97[EUR][1000 genomes]
rs11747924	0.84[JPT][hapmap]
rs11748058	0.97[EUR][1000 genomes]
rs11748465	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11748503	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11748524	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11749864	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs11750945	0.81[AMR][1000 genomes]
rs12152879	0.94[ASN][1000 genomes]
rs12186466	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs12188069	0.82[CEU][hapmap];0.95[EUR][1000 genomes]
rs12188070	0.95[EUR][1000 genomes]
rs12188230	0.97[EUR][1000 genomes]
rs12514091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12516418	0.86[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes]
rs12519753	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12520003	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12521391	0.89[EUR][1000 genomes]
rs12522683	0.89[EUR][1000 genomes]
rs12522862	0.89[EUR][1000 genomes]
rs12523027	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs12523255	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12523284	0.95[EUR][1000 genomes]
rs13188946	0.88[YRI][hapmap]
rs13360719	0.92[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1366393	0.88[YRI][hapmap]
rs1443683	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs1517209	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1586943	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17135454	0.89[EUR][1000 genomes]
rs17135463	0.89[EUR][1000 genomes]
rs17135506	0.97[EUR][1000 genomes]
rs17135507	0.97[EUR][1000 genomes]
rs17135514	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135515	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135517	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135519	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135520	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135526	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135531	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs17135546	0.85[CEU][hapmap];0.95[EUR][1000 genomes]
rs17135597	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17135608	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17135616	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17135630	0.86[JPT][hapmap]
rs17164185	0.89[EUR][1000 genomes]
rs1833678	1.00[JPT][hapmap]
rs1838208	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1845289	0.97[EUR][1000 genomes]
rs1850407	0.88[YRI][hapmap]
rs1850412	0.88[YRI][hapmap]
rs1965429	0.81[YRI][hapmap]
rs2042222	0.88[JPT][hapmap]
rs2068923	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs2222144	0.86[YRI][hapmap]
rs26959	0.92[YRI][hapmap]
rs26961	0.81[YRI][hapmap]
rs26966	0.84[YRI][hapmap]
rs27567	0.92[YRI][hapmap]
rs34271294	0.87[EUR][1000 genomes]
rs3846721	1.00[JPT][hapmap]
rs3846722	0.88[JPT][hapmap]
rs4331889	0.89[YRI][hapmap]
rs4632792	0.97[EUR][1000 genomes]
rs4705549	0.89[EUR][1000 genomes]
rs4705551	0.88[JPT][hapmap]
rs4705810	0.97[EUR][1000 genomes]
rs4705814	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4705817	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4705818	0.98[ASN][1000 genomes]
rs4705819	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4705826	1.00[JPT][hapmap]
rs56294433	0.87[EUR][1000 genomes]
rs59954246	0.83[AFR][1000 genomes]
rs60437559	0.97[EUR][1000 genomes]
rs62374372	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6594695	0.97[EUR][1000 genomes]
rs6594696	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs6594697	0.85[CEU][hapmap];0.97[EUR][1000 genomes]
rs6594701	1.00[YRI][hapmap]
rs6594704	0.89[YRI][hapmap]
rs6594705	0.89[YRI][hapmap]
rs6594707	0.82[YRI][hapmap]
rs6594710	0.88[YRI][hapmap]
rs6594712	0.86[YRI][hapmap]
rs66644309	0.81[AMR][1000 genomes]
rs66728961	1.00[ASN][1000 genomes]
rs67303814	0.94[ASN][1000 genomes]
rs67764628	0.96[ASN][1000 genomes]
rs6861786	0.86[ASN][1000 genomes]
rs6864528	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6867397	0.88[YRI][hapmap]
rs6877524	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6878001	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6879761	0.89[EUR][1000 genomes]
rs6879800	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs6882900	0.86[ASN][1000 genomes]
rs6883441	0.88[JPT][hapmap]
rs6894687	0.84[YRI][hapmap]
rs73236478	0.98[ASN][1000 genomes]
rs73236479	0.94[ASN][1000 genomes]
rs73244759	0.89[EUR][1000 genomes]
rs73244767	0.95[EUR][1000 genomes]
rs73244770	0.95[EUR][1000 genomes]
rs73244772	0.90[EUR][1000 genomes]
rs73246604	0.97[EUR][1000 genomes]
rs73246629	0.97[EUR][1000 genomes]
rs73246681	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7703865	0.89[EUR][1000 genomes]
rs7707443	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs7717000	0.88[JPT][hapmap];0.85[YRI][hapmap];0.81[AMR][1000 genomes]
rs7717422	0.86[YRI][hapmap]
rs7725589	0.89[YRI][hapmap]
rs9326886	0.82[YRI][hapmap]
rs9326887	0.81[YRI][hapmap]
rs9326888	0.82[YRI][hapmap]
rs957777	1.00[JPT][hapmap]
rs9632462	0.82[YRI][hapmap]
rs9800316	1.00[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:19 , 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	chr5:112673000-112676400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:112673200-112676800	Weak transcription	Fetal Stomach	stomach
13	chr5:112673200-112678400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:112674200-112676000	Enhancers	Fetal Heart	heart
15	chr5:112674200-112676200	Weak transcription	Left Ventricle	heart
16	chr5:112674400-112676200	Weak transcription	Right Atrium	heart
17	chr5:112674600-112678800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr5:112675000-112676000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr5:112675400-112675800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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