Variant report

Variant	rs72854112
Chromosome Location	chr2:144799319-144799320
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10496957	0.90[ASN][1000 genomes]
rs12615549	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618470	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1429097	0.88[ASN][1000 genomes]
rs1465366	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465367	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1469474	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16823412	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16823471	0.91[ASN][1000 genomes]
rs16823475	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16823488	0.84[ASN][1000 genomes]
rs16823491	0.84[ASN][1000 genomes]
rs16823520	0.88[ASN][1000 genomes]
rs28648869	0.87[EUR][1000 genomes]
rs34429810	0.89[ASN][1000 genomes]
rs4662217	0.84[ASN][1000 genomes]
rs4662364	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55772185	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56119149	0.84[ASN][1000 genomes]
rs56332803	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56349864	0.88[ASN][1000 genomes]
rs56411188	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56947011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57286143	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6430050	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6719835	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6725251	0.92[ASN][1000 genomes]
rs6747609	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6757980	0.88[ASN][1000 genomes]
rs67782055	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72854104	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72854147	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7572015	0.91[ASN][1000 genomes]
rs7602624	0.96[ASN][1000 genomes]
rs959766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs959767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144735800-144800400	Weak transcription	Ovary	ovary
2	chr2:144773800-144800600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr2:144783600-144817000	Weak transcription	Aorta	Aorta
4	chr2:144795600-144799600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:144797000-144804400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:144797400-144800800	Weak transcription	Psoas Muscle	Psoas
7	chr2:144798000-144808000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:144798800-144799400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr2:144799000-144800000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:144799200-144799600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:144799200-144799600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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