Variant report

Variant	rs4240873
Chromosome Location	chr1:154509724-154509725
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	chr1:154508615..154511081-chr1:154512298..154516089,3	K562	blood:

Variant related genes	Relation type
ENSG00000163239	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10752642	0.87[YRI][hapmap]
rs11265605	1.00[EUR][1000 genomes]
rs11265627	0.87[YRI][hapmap]
rs11265630	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs4072391	0.82[YRI][hapmap]
rs4078519	1.00[EUR][1000 genomes]
rs4288587	0.83[YRI][hapmap]
rs4393148	0.95[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4474240	0.83[YRI][hapmap]
rs4518898	0.85[YRI][hapmap]
rs4520411	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845632	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4845646	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs6427694	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6427716	0.87[YRI][hapmap]
rs6670375	0.87[YRI][hapmap]
rs6678164	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6681961	0.92[AFR][1000 genomes]
rs6683078	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6684225	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685108	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6687112	0.87[YRI][hapmap]
rs6691727	0.87[YRI][hapmap]
rs7513603	0.87[YRI][hapmap]
rs7515974	0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7530737	0.96[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7537595	1.00[EUR][1000 genomes]
rs7539745	0.92[YRI][hapmap];0.85[AFR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9659545	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9728545	0.91[AFR][1000 genomes]
rs9804125	1.00[EUR][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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154492800-154521400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:154494800-154512000	Weak transcription	Adipose Nuclei	Adipose
3	chr1:154497600-154521200	Weak transcription	Spleen	Spleen
4	chr1:154508800-154509800	Bivalent Enhancer	HSMMtube	muscle
5	chr1:154509400-154510000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain

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