Variant report

Variant	rs4515247
Chromosome Location	chr5:54069730-54069731
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:54066799..54068824-chr5:54069202..54071627,2	K562	blood:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10039924	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10042288	0.81[EUR][1000 genomes]
rs10042495	0.81[EUR][1000 genomes]
rs10045790	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10050561	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10053168	0.82[ASN][1000 genomes]
rs10058862	0.80[EUR][1000 genomes]
rs10061958	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10066294	0.87[EUR][1000 genomes]
rs10068073	0.92[ASN][1000 genomes]
rs10071183	0.90[ASN][1000 genomes]
rs10073662	0.90[ASN][1000 genomes]
rs10073721	0.90[ASN][1000 genomes]
rs10073837	0.93[ASN][1000 genomes]
rs10434559	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10461588	0.82[ASN][1000 genomes]
rs10805463	0.82[ASN][1000 genomes]
rs10940427	0.88[EUR][1000 genomes]
rs11950757	0.93[ASN][1000 genomes]
rs11959080	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13186826	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16883428	0.84[ASN][1000 genomes]
rs1867685	0.93[ASN][1000 genomes]
rs4242044	0.90[ASN][1000 genomes]
rs4282277	0.92[ASN][1000 genomes]
rs4290968	0.82[ASN][1000 genomes]
rs4292417	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4298212	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4336310	0.82[ASN][1000 genomes]
rs4356994	0.90[ASN][1000 genomes]
rs4457032	0.82[ASN][1000 genomes]
rs4498213	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4527555	0.88[EUR][1000 genomes]
rs4865870	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4865872	0.90[ASN][1000 genomes]
rs4865873	0.82[ASN][1000 genomes]
rs4865874	0.82[ASN][1000 genomes]
rs59595173	0.92[ASN][1000 genomes]
rs59664922	0.97[ASN][1000 genomes]
rs60548640	0.95[ASN][1000 genomes]
rs6450247	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6450248	0.97[ASN][1000 genomes]
rs6860729	0.92[ASN][1000 genomes]
rs6863705	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6867867	0.90[ASN][1000 genomes]
rs6892315	0.90[ASN][1000 genomes]
rs6899052	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73126822	0.97[ASN][1000 genomes]
rs73126828	0.97[ASN][1000 genomes]
rs73126830	0.97[ASN][1000 genomes]
rs7709225	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7709401	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7726707	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9292072	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9292073	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv880717	chr5:54025701-54106378	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	nsv830300	chr5:54056300-54257344	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:54060600-54070000	Weak transcription	Fetal Muscle Leg	muscle
2	chr5:54061000-54070400	Weak transcription	NHLF	lung
3	chr5:54067000-54071200	Enhancers	Primary B cells from peripheral blood	blood
4	chr5:54067200-54070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr5:54067200-54071400	Enhancers	Primary B cells from cord blood	blood
6	chr5:54067400-54070200	Weak transcription	Fetal Stomach	stomach
7	chr5:54067400-54073400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:54068000-54071000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr5:54068400-54074800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr5:54068600-54070400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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