Variant report

Variant	rs1508440
Chromosome Location	chr6:129017793-129017794
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 147 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10485164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11154445	0.89[EUR][1000 genomes]
rs12191852	0.90[ASN][1000 genomes]
rs12194587	0.86[ASN][1000 genomes]
rs12212602	0.86[ASN][1000 genomes]
rs1341590	0.89[EUR][1000 genomes]
rs1341593	0.91[CEU][hapmap]
rs1361592	0.80[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1361593	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs1396299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396300	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396301	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396302	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396304	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1508436	0.88[ASN][1000 genomes]
rs1508437	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1508438	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1508439	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2063207	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064581	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064582	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2064583	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064584	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2064585	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2096099	0.88[ASN][1000 genomes]
rs2153706	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2174934	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2202776	0.88[ASN][1000 genomes]
rs2326739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326741	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2326742	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4457181	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs471145	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs472588	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs478551	0.95[CEU][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs478649	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs479187	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs480169	0.92[ASN][1000 genomes]
rs482607	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs485179	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4895836	0.90[ASN][1000 genomes]
rs4895837	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4897267	0.95[CEU][hapmap];0.81[JPT][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4897270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4897272	0.87[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs497668	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs506953	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs508972	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs525293	0.95[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs528060	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs529678	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs545102	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs545332	0.90[ASN][1000 genomes]
rs546085	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs551729	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs565485	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs565685	0.80[JPT][hapmap]
rs572745	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs573382	0.82[ASN][1000 genomes]
rs57744071	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61613152	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62425863	0.95[ASN][1000 genomes]
rs6569540	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6569541	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6569542	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6569543	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6569544	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569545	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569546	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569547	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569548	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6569549	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569550	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569551	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569552	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6569553	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6569554	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6899438	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6899472	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6899518	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6899718	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6899904	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6911163	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6911735	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6911931	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6919812	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6919933	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6926043	0.89[ASN][1000 genomes]
rs6927434	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927678	0.92[ASN][1000 genomes]
rs6934363	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6934365	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6935888	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6936447	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6937636	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938304	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6938488	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6938701	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs699425	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs699426	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs774290	0.82[ASN][1000 genomes]
rs774291	0.82[ASN][1000 genomes]
rs7744000	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7748045	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7748311	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7748702	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7752709	0.90[CHB][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7753787	0.90[EUR][1000 genomes]
rs7753865	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7754832	0.80[ASN][1000 genomes]
rs7757306	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7757503	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7768942	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7771173	0.95[CEU][hapmap];0.81[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7771467	0.82[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7773822	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7775324	0.90[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7775662	0.90[CHB][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9321126	0.86[ASN][1000 genomes]
rs9321128	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9321129	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9372899	0.97[ASN][1000 genomes]
rs9372900	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375587	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375588	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375589	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9375590	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9375591	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9385470	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9388662	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9388663	0.85[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs9398879	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9402063	0.90[ASN][1000 genomes]
rs9402064	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9402065	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9402066	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9402067	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9492031	0.91[CEU][hapmap]
rs9492049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9492052	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs972997	0.88[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	nsv1020071	chr6:128579774-129048919	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv538441	chr6:128579774-129048919	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv830801	chr6:128878436-129064667	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030330	chr6:129008538-129095108	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:129015200-129018800	Enhancers	HUVEC	blood vessel
2	chr6:129017400-129018400	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:129017400-129018400	Enhancers	NHDF-Ad	bronchial
4	chr6:129017400-129018600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:129017400-129018600	Enhancers	A549	lung
6	chr6:129017400-129018600	Enhancers	HMEC	breast
7	chr6:129017400-129018800	Enhancers	NHEK	skin
8	chr6:129017600-129018000	Enhancers	HSMM	muscle
9	chr6:129017600-129018000	Enhancers	NH-A	brain
10	chr6:129017600-129018200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:129017600-129018600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:129017600-129018600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:129017600-129018600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:129017600-129018600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:129017600-129018600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:129017600-129018600	Enhancers	Osteobl	bone
17	chr6:129017600-129018800	Enhancers	Hela-S3	cervix
18	chr6:129017600-129018800	Enhancers	NHLF	lung

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