Variant report

Variant	rs73956458
Chromosome Location	chr2:111552271-111552272
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	chr2:111547853..111550512-chr2:111551809..111553999,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs55693530	0.80[AFR][1000 genomes]
rs56238232	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57166069	0.80[AFR][1000 genomes]
rs57934984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58287229	1.00[AMR][1000 genomes]
rs58796451	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59952084	0.80[AFR][1000 genomes]
rs73954652	1.00[AMR][1000 genomes]
rs73954653	1.00[AMR][1000 genomes]
rs73954660	1.00[AMR][1000 genomes]
rs73954672	0.80[AFR][1000 genomes]
rs73956432	0.80[AFR][1000 genomes]
rs73956436	0.83[AFR][1000 genomes]
rs73956438	0.80[AFR][1000 genomes]
rs73956442	1.00[AMR][1000 genomes]
rs73956443	1.00[AMR][1000 genomes]
rs73956445	1.00[AMR][1000 genomes]
rs73956446	1.00[AMR][1000 genomes]
rs73956448	1.00[AMR][1000 genomes]
rs73956449	1.00[AMR][1000 genomes]
rs73956450	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956451	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956453	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956454	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956455	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956457	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956460	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956462	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956463	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73956467	0.86[AFR][1000 genomes];1.00[AMR][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	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	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	chr2:111531200-111566200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111531600-111556800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:111531600-111558600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:111546800-111553000	Weak transcription	Lung	lung
5	chr2:111547200-111554000	Weak transcription	Fetal Brain Female	brain
6	chr2:111548800-111552600	Weak transcription	Fetal Brain Male	brain
7	chr2:111550600-111553000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:111550800-111553000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:111551200-111555000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:111551600-111552400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:111551600-111553200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:111551800-111552400	Enhancers	Fetal Heart	heart
13	chr2:111551800-111552600	Enhancers	Right Ventricle	heart
14	chr2:111551800-111552800	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:111551800-111553400	Enhancers	Left Ventricle	heart
16	chr2:111552000-111552800	Enhancers	Pancreas	Pancrea
17	chr2:111552200-111555400	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr2:111552200-111556000	Weak transcription	H1 Cell Line	embryonic stem cell

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