Variant report

Variant	rs2048474
Chromosome Location	chr7:79935587-79935588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10081383	0.96[ASN][1000 genomes]
rs10215570	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10224409	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10226374	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10235376	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10245039	0.98[ASN][1000 genomes]
rs10246790	0.87[ASN][1000 genomes]
rs10249625	0.96[ASN][1000 genomes]
rs10265717	0.81[JPT][hapmap]
rs10267427	1.00[YRI][hapmap]
rs10269645	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10480799	0.81[JPT][hapmap];1.00[YRI][hapmap]
rs10954137	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13222182	0.94[ASN][1000 genomes]
rs13226877	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13229096	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13230620	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs13233772	0.95[ASN][1000 genomes]
rs13234088	0.97[ASN][1000 genomes]
rs13237208	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13237302	0.97[ASN][1000 genomes]
rs13237312	0.97[ASN][1000 genomes]
rs13238619	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13243724	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1878214	0.81[JPT][hapmap]
rs1995971	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158123	0.97[ASN][1000 genomes]
rs28584961	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28875814	0.86[ASN][1000 genomes]
rs304773	0.80[JPT][hapmap]
rs304774	0.87[JPT][hapmap]
rs304775	0.93[JPT][hapmap]
rs3914181	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4731329	0.81[EUR][1000 genomes]
rs4731336	0.91[EUR][1000 genomes]
rs67417372	0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs6966532	0.87[JPT][hapmap];1.00[YRI][hapmap]
rs7782930	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7785183	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7797587	0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7798039	0.97[ASN][1000 genomes]
rs9656355	1.00[ASN][1000 genomes]
rs979425	0.81[EUR][1000 genomes];1.00[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	nsv429785	chr7:79589749-80177049	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1024312	chr7:79832637-80004812	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1029180	chr7:79832637-80017560	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:79931800-79936400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:79932600-79938800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:79932800-79938800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:79933000-79936600	Weak transcription	NHEK	skin
5	chr7:79934400-79937400	Enhancers	Fetal Brain Female	brain
6	chr7:79935400-79937600	Enhancers	Fetal Brain Male	brain

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