Variant report

Variant	rs72917514
Chromosome Location	chr2:55013646-55013647
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	chr2:55010731..55013685-chr2:55129900..55132615,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11125544	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11678461	0.98[ASN][1000 genomes]
rs11683128	0.96[ASN][1000 genomes]
rs11690558	0.87[ASN][1000 genomes]
rs11691922	0.89[ASN][1000 genomes]
rs11891165	0.87[ASN][1000 genomes]
rs11897031	0.87[ASN][1000 genomes]
rs11899655	0.98[ASN][1000 genomes]
rs11901245	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12613164	0.99[ASN][1000 genomes]
rs12622172	0.86[ASN][1000 genomes]
rs17046310	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17046312	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17521852	0.96[ASN][1000 genomes]
rs35559436	0.95[ASN][1000 genomes]
rs56320255	0.89[ASN][1000 genomes]
rs58350716	1.00[ASN][1000 genomes]
rs6709473	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6713115	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6761960	1.00[ASN][1000 genomes]
rs72915588	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72917512	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33638	chr2:54765256-55109455	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1005449	chr2:54938633-55129503	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1844727	chr2:54999712-55084583	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv870295	chr2:55008613-55065985	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv457908	chr2:55010115-55031023	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv582026	chr2:55010115-55031023	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv470465	chr2:55010115-55034113	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv457919	chr2:55010193-55028892	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv582027	chr2:55010193-55028892	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55012000-55015200	Enhancers	Primary B cells from peripheral blood	blood
2	chr2:55013200-55014000	Enhancers	HepG2	liver
3	chr2:55013600-55013800	Bivalent Enhancer	Stomach Mucosa	stomach
4	chr2:55013600-55014200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr2:55013600-55015400	Enhancers	Pancreas	Pancrea

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