Variant report

Variant	rs60054012
Chromosome Location	chr2:85921635-85921636
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs59153844	1.00[AMR][1000 genomes]
rs59875598	1.00[AMR][1000 genomes]
rs59944166	1.00[AMR][1000 genomes]
rs6547630	1.00[AMR][1000 genomes]
rs6733404	1.00[AMR][1000 genomes]
rs72925004	1.00[AMR][1000 genomes]
rs72925006	1.00[AMR][1000 genomes]
rs72925076	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72925101	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7563758	1.00[AMR][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	nsv874459	chr2:85828014-85939207	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874460	chr2:85828014-85941074	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv874461	chr2:85853653-85939207	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv874462	chr2:85853653-85941074	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv874463	chr2:85853653-85946708	Strong transcription Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv874465	chr2:85898898-85939207	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv2812	chr2:85899944-85929267	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv874466	chr2:85909026-85939207	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv874467	chr2:85916487-85946708	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:85917000-85922800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:85920400-85924000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr2:85920400-85924600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr2:85920400-85925600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:85921000-85922000	Enhancers	HSMM	muscle
6	chr2:85921200-85922000	Enhancers	Lung	lung
7	chr2:85921200-85922400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:85921200-85922600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:85921200-85924400	Active TSS	Primary T cells fromperipheralblood	blood
10	chr2:85921400-85923600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr2:85921600-85921800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:85921600-85921800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:85921600-85921800	Enhancers	HSMMtube	muscle
14	chr2:85921600-85922000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:85921600-85922000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr2:85921600-85922600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:85921600-85922600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:85921600-85923600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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