Variant report

Variant	rs2139472
Chromosome Location	chr1:242219060-242219061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:242217500..242220203-chr1:242220898..242222680,2	K562	blood:

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10157604	0.94[AFR][1000 genomes]
rs10159085	0.94[AFR][1000 genomes]
rs10737871	0.94[AFR][1000 genomes]
rs10754743	0.94[AFR][1000 genomes]
rs10754744	0.94[AFR][1000 genomes]
rs10754745	0.94[AFR][1000 genomes]
rs10803009	1.00[AFR][1000 genomes]
rs10803011	1.00[AFR][1000 genomes]
rs12078997	0.94[AFR][1000 genomes]
rs1519903	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1810357	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1832943	0.89[AFR][1000 genomes]
rs2139471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176765	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2176766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4554709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4658402	0.94[AFR][1000 genomes]
rs56098544	1.00[AMR][1000 genomes]
rs56313862	1.00[AMR][1000 genomes]
rs56654625	1.00[AMR][1000 genomes]
rs57210464	1.00[AMR][1000 genomes]
rs60423113	1.00[AMR][1000 genomes]
rs6429330	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659309	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6664325	1.00[AFR][1000 genomes]
rs6668482	1.00[AMR][1000 genomes]
rs6678852	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6683254	1.00[AFR][1000 genomes]
rs6690719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6691394	1.00[AFR][1000 genomes]
rs6695174	1.00[AMR][1000 genomes]
rs74150804	1.00[AMR][1000 genomes]
rs74150805	1.00[AMR][1000 genomes]
rs74150806	1.00[AMR][1000 genomes]
rs74150808	1.00[AMR][1000 genomes]
rs74150815	1.00[AMR][1000 genomes]
rs74150817	1.00[AMR][1000 genomes]
rs74150825	1.00[AMR][1000 genomes]
rs74150828	1.00[AMR][1000 genomes]
rs74150835	1.00[AMR][1000 genomes]
rs74153319	1.00[AMR][1000 genomes]
rs74153339	1.00[AMR][1000 genomes]
rs74153345	1.00[AMR][1000 genomes]
rs74153346	1.00[AMR][1000 genomes]
rs74153352	1.00[AMR][1000 genomes]
rs74153361	1.00[AMR][1000 genomes]
rs7537433	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7543347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs908968	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873372	chr1:241690554-242438293	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv948409	chr1:241830086-242489705	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	esv2750830	chr1:242025098-242303357	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv2750831	chr1:242025098-242332959	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1002309	chr1:242042242-242295635	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv869647	chr1:242141471-242248271	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv508703	chr1:242146940-242252101	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv468672	chr1:242201247-242555949	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv470788	chr1:242201247-242555949	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv549462	chr1:242201247-242555949	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:242217600-242220200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:242218600-242219400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:242218600-242220200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr1:242218600-242220400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:242218800-242219600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:242218800-242219600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:242218800-242219800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:242218800-242219800	Enhancers	Brain Germinal Matrix	brain
9	chr1:242219000-242219200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:242219000-242219400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:242219000-242219400	Enhancers	Brain Angular Gyrus	brain
12	chr1:242219000-242219600	Enhancers	Brain Hippocampus Middle	brain
13	chr1:242219000-242220000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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