Variant report

Variant	rs10518213
Chromosome Location	chr4:80008023-80008024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79998907..80000572-chr4:80006530..80008071,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11723369	0.99[EUR][1000 genomes]
rs12499521	0.98[EUR][1000 genomes]
rs12643284	0.96[EUR][1000 genomes]
rs1350008	1.00[EUR][1000 genomes]
rs1378379	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1455299	1.00[EUR][1000 genomes]
rs1455305	0.98[EUR][1000 genomes]
rs1455306	0.98[EUR][1000 genomes]
rs1455307	0.98[EUR][1000 genomes]
rs1480719	0.95[EUR][1000 genomes]
rs1480735	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1480736	0.97[EUR][1000 genomes]
rs1480737	0.97[EUR][1000 genomes]
rs1480738	1.00[EUR][1000 genomes]
rs17003589	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17003625	1.00[CEU][hapmap];0.81[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17003626	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs188253	0.99[EUR][1000 genomes]
rs188254	0.99[EUR][1000 genomes]
rs2016189	1.00[EUR][1000 genomes]
rs207020	0.99[EUR][1000 genomes]
rs2127782	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2127783	1.00[EUR][1000 genomes]
rs2604827	1.00[EUR][1000 genomes]
rs2604828	0.98[EUR][1000 genomes]
rs2604829	0.82[EUR][1000 genomes]
rs2604830	0.98[EUR][1000 genomes]
rs2604832	0.96[EUR][1000 genomes]
rs2604833	0.97[EUR][1000 genomes]
rs2604834	0.98[EUR][1000 genomes]
rs2622350	0.98[EUR][1000 genomes]
rs2622352	0.97[EUR][1000 genomes]
rs2622353	0.96[EUR][1000 genomes]
rs2622354	0.97[EUR][1000 genomes]
rs2622355	0.91[EUR][1000 genomes]
rs2622356	0.93[EUR][1000 genomes]
rs2622357	0.98[EUR][1000 genomes]
rs2622358	1.00[EUR][1000 genomes]
rs286448	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs286450	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs286452	0.95[EUR][1000 genomes]
rs286456	0.97[EUR][1000 genomes]
rs286457	0.97[EUR][1000 genomes]
rs286458	0.96[EUR][1000 genomes]
rs286459	0.91[EUR][1000 genomes]
rs286460	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs286461	0.99[EUR][1000 genomes]
rs286462	0.99[EUR][1000 genomes]
rs286463	0.80[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs286464	0.99[EUR][1000 genomes]
rs286465	0.99[EUR][1000 genomes]
rs286466	0.98[EUR][1000 genomes]
rs286467	0.98[EUR][1000 genomes]
rs286468	0.98[EUR][1000 genomes]
rs286473	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4320158	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55672352	1.00[EUR][1000 genomes]
rs56391107	1.00[EUR][1000 genomes]
rs62308747	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62308748	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62308749	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62310026	0.83[EUR][1000 genomes]
rs6813045	1.00[EUR][1000 genomes]
rs6813727	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6825891	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6833006	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6838863	1.00[EUR][1000 genomes]
rs7438158	1.00[CEU][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7685661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs930834	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs962169	1.00[EUR][1000 genomes]
rs9686053	1.00[EUR][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	nsv829979	chr4:79819168-80019159	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription 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	6 gene(s)	inside rSNPs	diseases
2	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv3448470	chr4:79898340-80026510	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80005400-80009400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr4:80005800-80010000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:80006400-80010000	Weak transcription	Fetal Heart	heart
4	chr4:80007200-80011200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:80007200-80012400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:80007600-80008400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr4:80007600-80008400	Weak transcription	Brain Substantia Nigra	brain
8	chr4:80007600-80009000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr4:80007600-80010800	Enhancers	Cortex derived primary cultured neurospheres	brain

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