Variant report

Variant	rs6848307
Chromosome Location	chr4:153082248-153082249
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	chr4:153075644..153078430-chr4:153081633..153084131,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10030518	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11099843	0.90[ASN][1000 genomes]
rs11721407	0.82[ASN][1000 genomes]
rs11721782	0.82[ASN][1000 genomes]
rs11726930	0.90[ASN][1000 genomes]
rs11727862	0.90[ASN][1000 genomes]
rs11733971	0.90[ASN][1000 genomes]
rs11736628	0.86[ASN][1000 genomes]
rs11737156	0.86[ASN][1000 genomes]
rs13112841	0.86[ASN][1000 genomes]
rs13131134	0.86[ASN][1000 genomes]
rs13147317	0.87[EUR][1000 genomes]
rs2406622	0.86[ASN][1000 genomes]
rs2406625	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2897478	0.86[ASN][1000 genomes]
rs34069606	0.90[ASN][1000 genomes]
rs34276148	0.86[ASN][1000 genomes]
rs34909306	0.86[ASN][1000 genomes]
rs35296212	0.90[ASN][1000 genomes]
rs4557238	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56780740	0.88[ASN][1000 genomes]
rs61226564	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6535839	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6535840	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6823091	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6833264	0.86[ASN][1000 genomes]
rs6837375	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6843300	0.86[EUR][1000 genomes]
rs6843947	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs747110	0.85[CEU][hapmap]
rs7662581	0.86[ASN][1000 genomes]
rs7671283	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7674458	0.86[ASN][1000 genomes]
rs7675252	0.86[ASN][1000 genomes]
rs7675481	0.86[ASN][1000 genomes]
rs7682931	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv880774	chr4:153035743-153121818	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6848307	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153076400-153085600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:153078000-153085800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:153078000-153090600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr4:153080000-153082800	Weak transcription	Brain Substantia Nigra	brain
5	chr4:153080000-153083200	Weak transcription	Brain Germinal Matrix	brain
6	chr4:153080400-153084000	Weak transcription	Thymus	Thymus
7	chr4:153080600-153082800	Enhancers	Right Ventricle	heart
8	chr4:153081200-153082800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr4:153081600-153082600	Weak transcription	Fetal Heart	heart
10	chr4:153082000-153082800	Weak transcription	Right Atrium	heart
11	chr4:153082000-153083000	Enhancers	Left Ventricle	heart
12	chr4:153082000-153084800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:153082000-153085600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr4:153082200-153084000	Enhancers	Skeletal Muscle Male	skeletal muscle

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