Variant report

Variant	rs6819251
Chromosome Location	chr4:86454846-86454847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs10516749	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs10516751	0.93[YRI][hapmap];0.89[AFR][1000 genomes]
rs1156516	0.94[AFR][1000 genomes]
rs11931565	0.97[YRI][hapmap];0.86[AFR][1000 genomes]
rs11932352	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs11936036	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs11936794	0.90[AFR][1000 genomes]
rs11937495	0.89[AFR][1000 genomes]
rs11940831	0.89[AFR][1000 genomes]
rs11942163	0.82[YRI][hapmap];0.87[AFR][1000 genomes]
rs11945019	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs11945092	0.91[AFR][1000 genomes]
rs12510337	0.81[AMR][1000 genomes]
rs1481776	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1481777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1481782	0.80[YRI][hapmap]
rs1540595	0.97[YRI][hapmap];0.94[AFR][1000 genomes]
rs17010302	0.97[YRI][hapmap];0.87[AFR][1000 genomes]
rs17010307	0.92[YRI][hapmap];0.86[AFR][1000 genomes]
rs17010314	0.97[YRI][hapmap];0.93[AFR][1000 genomes]
rs17010316	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs17010318	0.96[YRI][hapmap];0.93[AFR][1000 genomes]
rs17010321	0.92[AFR][1000 genomes]
rs17010342	0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs17010356	0.93[YRI][hapmap];0.92[AFR][1000 genomes]
rs17010358	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs17010365	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17010389	0.93[YRI][hapmap];0.91[AFR][1000 genomes]
rs17010393	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs17010402	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs17010406	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1905033	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs1982699	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1982700	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1982701	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1994062	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1994063	0.87[AFR][1000 genomes]
rs1994064	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs1994066	0.81[YRI][hapmap]
rs1994070	0.86[YRI][hapmap]
rs1994072	0.82[YRI][hapmap]
rs1994073	0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs1994074	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs2869351	0.80[YRI][hapmap]
rs2869359	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs3919901	0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs4327478	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4327479	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4348085	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4391024	0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs4431218	0.93[YRI][hapmap]
rs4440206	0.91[AFR][1000 genomes]
rs4450923	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4450924	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4450925	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4525966	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs4693706	0.82[YRI][hapmap]
rs58330660	0.90[AFR][1000 genomes]
rs59472265	0.92[AFR][1000 genomes]
rs60617422	0.90[AFR][1000 genomes]
rs61658381	0.94[AFR][1000 genomes]
rs6531826	0.97[YRI][hapmap];0.93[AFR][1000 genomes]
rs6531828	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs6531829	0.90[YRI][hapmap];0.85[AFR][1000 genomes]
rs6814596	0.97[YRI][hapmap];0.91[AFR][1000 genomes]
rs6814983	0.97[YRI][hapmap];0.92[AFR][1000 genomes]
rs6819986	0.97[YRI][hapmap];0.93[AFR][1000 genomes]
rs6828388	0.85[YRI][hapmap]
rs6828628	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs6829120	0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs6829628	0.90[YRI][hapmap];0.83[AFR][1000 genomes]
rs6836668	0.96[YRI][hapmap];0.94[AFR][1000 genomes]
rs72967858	0.90[AFR][1000 genomes]
rs72967861	0.90[AFR][1000 genomes]
rs72967867	0.90[AFR][1000 genomes]
rs72967869	0.90[AFR][1000 genomes]
rs72967871	0.90[AFR][1000 genomes]
rs73832792	0.81[AFR][1000 genomes]
rs73832798	0.88[AFR][1000 genomes]
rs73832799	0.90[AFR][1000 genomes]
rs7671915	0.80[AFR][1000 genomes]
rs7685458	0.83[YRI][hapmap]
rs7690205	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][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	nsv519588	chr4:85762385-86591202	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv461566	chr4:85988032-86725502	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
3	nsv594747	chr4:85988032-86725502	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
4	nsv470048	chr4:85998783-86720838	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86430200-86468600	Weak transcription	Pancreas	Pancrea
2	chr4:86436400-86455600	Weak transcription	Gastric	stomach
3	chr4:86445400-86464600	Weak transcription	HSMM	muscle
4	chr4:86452200-86465000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:86453400-86455200	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr4:86453400-86458600	Weak transcription	Fetal Heart	heart
7	chr4:86454000-86455600	Weak transcription	Primary B cells from cord blood	blood
8	chr4:86454000-86476600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:86454200-86455400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:86454400-86455200	Weak transcription	Primary B cells from peripheral blood	blood
11	chr4:86454600-86471800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:86454800-86471800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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