Variant report

Variant	rs12713008
Chromosome Location	chr2:48503561-48503562
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	chr2:48502226..48505078-chr2:48564025..48566160,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10174717	0.83[ASN][1000 genomes]
rs10180295	0.89[ASN][1000 genomes]
rs10186237	0.88[ASN][1000 genomes]
rs10193072	0.89[ASN][1000 genomes]
rs10199431	0.82[ASN][1000 genomes]
rs10208124	0.85[ASN][1000 genomes]
rs11676168	0.83[ASN][1000 genomes]
rs11682044	0.87[ASN][1000 genomes]
rs12616792	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13383364	0.86[ASN][1000 genomes]
rs13385535	0.83[ASN][1000 genomes]
rs13386751	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13387171	0.85[ASN][1000 genomes]
rs13388291	0.86[ASN][1000 genomes]
rs13426834	0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs13432998	0.83[ASN][1000 genomes]
rs2471403	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2471404	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2471405	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28806843	0.87[ASN][1000 genomes]
rs28841370	0.82[ASN][1000 genomes]
rs4290706	0.87[ASN][1000 genomes]
rs4411759	0.83[ASN][1000 genomes]
rs4547573	0.84[ASN][1000 genomes]
rs56352447	0.83[ASN][1000 genomes]
rs58660534	0.81[ASN][1000 genomes]
rs59264464	0.81[ASN][1000 genomes]
rs59412192	0.81[ASN][1000 genomes]
rs59761994	0.81[ASN][1000 genomes]
rs60677957	0.81[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs62136987	0.81[ASN][1000 genomes]
rs62137001	0.81[ASN][1000 genomes]
rs62137002	0.81[ASN][1000 genomes]
rs62137003	0.81[ASN][1000 genomes]
rs62137005	0.81[ASN][1000 genomes]
rs62137006	0.82[ASN][1000 genomes]
rs62137007	0.82[ASN][1000 genomes]
rs62138801	0.88[ASN][1000 genomes]
rs6545027	0.93[ASN][1000 genomes]
rs6545028	0.87[ASN][1000 genomes]
rs6545030	0.82[ASN][1000 genomes]
rs6545034	0.80[ASN][1000 genomes]
rs6545035	0.80[ASN][1000 genomes]
rs6712029	0.82[ASN][1000 genomes]
rs6757206	0.83[ASN][1000 genomes]
rs72818493	0.87[ASN][1000 genomes]
rs72820405	0.81[ASN][1000 genomes]
rs72887649	0.87[ASN][1000 genomes]
rs7340322	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7568960	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr2:48497800-48503600	Weak transcription	Liver	Liver
2	chr2:48498000-48503800	Weak transcription	Duodenum Mucosa	Duodenum
3	chr2:48501600-48503800	Weak transcription	GM12878-XiMat	blood
4	chr2:48501800-48503800	Weak transcription	K562	blood
5	chr2:48502600-48504000	Weak transcription	Psoas Muscle	Psoas
6	chr2:48502600-48504600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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