Variant report

Variant	rs72889514
Chromosome Location	chr2:50244362-50244363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10490236	1.00[EUR][1000 genomes]
rs1452774	1.00[EUR][1000 genomes]
rs17039730	1.00[EUR][1000 genomes]
rs17039734	1.00[EUR][1000 genomes]
rs17039747	1.00[EUR][1000 genomes]
rs17039753	1.00[EUR][1000 genomes]
rs17039795	1.00[EUR][1000 genomes]
rs2123386	1.00[EUR][1000 genomes]
rs56088150	1.00[EUR][1000 genomes]
rs57045869	1.00[EUR][1000 genomes]
rs58018074	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58756415	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58855276	1.00[EUR][1000 genomes]
rs58906199	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59158661	1.00[EUR][1000 genomes]
rs59497317	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59557443	0.95[AFR][1000 genomes]
rs59760564	1.00[EUR][1000 genomes]
rs60703382	1.00[EUR][1000 genomes]
rs61418384	1.00[EUR][1000 genomes]
rs72889520	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889535	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889541	1.00[EUR][1000 genomes]
rs72889543	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889545	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889546	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889550	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889551	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs72889556	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73932903	1.00[EUR][1000 genomes]
rs73932905	1.00[EUR][1000 genomes]
rs73932914	1.00[EUR][1000 genomes]
rs73932915	1.00[EUR][1000 genomes]
rs73932919	1.00[EUR][1000 genomes]
rs73932925	1.00[EUR][1000 genomes]
rs73932932	1.00[EUR][1000 genomes]
rs73932938	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431002	chr2:50243349-50259749	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50234200-50245600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr2:50237800-50245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr2:50241200-50245600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr2:50242600-50245400	Weak transcription	Brain Angular Gyrus	brain
5	chr2:50242600-50246000	Enhancers	Brain Germinal Matrix	brain
6	chr2:50242800-50245400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:50244000-50246200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:50244200-50244600	Enhancers	Brain Substantia Nigra	brain
9	chr2:50244200-50245400	Weak transcription	Fetal Brain Female	brain

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