Variant report

Variant	rs2139680
Chromosome Location	chr12:73784155-73784156
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10748229	0.81[EUR][1000 genomes]
rs10748230	0.81[EUR][1000 genomes]
rs10748231	0.81[EUR][1000 genomes]
rs10748232	0.81[EUR][1000 genomes]
rs10785025	0.83[EUR][1000 genomes]
rs10785026	0.85[EUR][1000 genomes]
rs10785027	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10785030	0.85[EUR][1000 genomes]
rs11179673	0.88[EUR][1000 genomes]
rs11179697	0.83[EUR][1000 genomes]
rs12304376	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12368237	0.89[EUR][1000 genomes]
rs1443737	0.83[EUR][1000 genomes]
rs1520550	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1520552	0.85[EUR][1000 genomes]
rs1520565	0.81[EUR][1000 genomes]
rs1520568	0.84[EUR][1000 genomes]
rs1543207	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545292	0.89[EUR][1000 genomes]
rs1548202	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1851041	0.81[EUR][1000 genomes]
rs1851042	0.85[EUR][1000 genomes]
rs1915285	0.81[EUR][1000 genomes]
rs1915286	0.81[EUR][1000 genomes]
rs4760887	0.81[EUR][1000 genomes]
rs6421241	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6582148	0.87[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7295470	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7298973	0.81[EUR][1000 genomes]
rs7301536	0.81[EUR][1000 genomes]
rs7310312	0.81[EUR][1000 genomes]
rs7316126	0.85[EUR][1000 genomes]
rs7485858	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7489254	0.81[EUR][1000 genomes]
rs7955005	0.85[EUR][1000 genomes]
rs7963550	0.81[EUR][1000 genomes]
rs7964705	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974278	0.87[EUR][1000 genomes]
rs7975033	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976937	0.86[EUR][1000 genomes]
rs7978802	0.85[EUR][1000 genomes]
rs952523	0.81[EUR][1000 genomes]
rs952524	0.81[EUR][1000 genomes]
rs965542	0.86[EUR][1000 genomes]
rs988541	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv899274	chr12:73510254-73875790	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv899277	chr12:73773886-73875790	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73779000-73784200	Weak transcription	Stomach Mucosa	stomach
2	chr12:73779400-73784400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr12:73783600-73784600	Enhancers	Fetal Intestine Large	intestine
4	chr12:73783800-73784800	Enhancers	Fetal Intestine Small	intestine

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