Variant report

Variant	rs72874678
Chromosome Location	chr2:50316035-50316036
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	chr2:50315921..50317708-chr2:50317822..50319427,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11897655	1.00[AMR][1000 genomes]
rs58228125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59133746	1.00[AMR][1000 genomes]
rs60693233	1.00[AMR][1000 genomes]
rs72874680	1.00[AMR][1000 genomes]
rs72874682	1.00[AMR][1000 genomes]
rs72878133	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72878177	1.00[AMR][1000 genomes]
rs72881248	1.00[AMR][1000 genomes]
rs72881277	1.00[AMR][1000 genomes]
rs72881278	1.00[AMR][1000 genomes]
rs72885854	1.00[AMR][1000 genomes]
rs72885858	1.00[AMR][1000 genomes]
rs72885864	1.00[AMR][1000 genomes]
rs72885885	1.00[AMR][1000 genomes]
rs72885888	1.00[AMR][1000 genomes]
rs72885889	1.00[AMR][1000 genomes]
rs72885894	1.00[AMR][1000 genomes]
rs72885897	1.00[AMR][1000 genomes]
rs72885898	1.00[AMR][1000 genomes]
rs72887723	1.00[AMR][1000 genomes]
rs72887744	1.00[AMR][1000 genomes]
rs72887745	1.00[AMR][1000 genomes]
rs72887746	1.00[AMR][1000 genomes]
rs72887830	1.00[AMR][1000 genomes]
rs72887834	1.00[AMR][1000 genomes]
rs72887861	1.00[AMR][1000 genomes]
rs72887901	1.00[AMR][1000 genomes]
rs72889504	1.00[AMR][1000 genomes]
rs72889507	1.00[AMR][1000 genomes]
rs72889549	1.00[AMR][1000 genomes]
rs72891409	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891431	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891432	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72891470	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2755683	chr2:50307245-50345280	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv2756536	chr2:50313811-50375695	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50315600-50317800	Weak transcription	Brain Germinal Matrix	brain

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