Variant report

Variant	rs2123386
Chromosome Location	chr2:50388488-50388489
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10490236	0.88[YRI][hapmap];1.00[AMR][1000 genomes];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]
rs17040018	0.87[YRI][hapmap]
rs17040026	0.92[YRI][hapmap]
rs17040415	1.00[EUR][1000 genomes]
rs56088150	1.00[EUR][1000 genomes]
rs57045869	1.00[EUR][1000 genomes]
rs58018074	1.00[EUR][1000 genomes]
rs58499876	1.00[EUR][1000 genomes]
rs58756415	1.00[EUR][1000 genomes]
rs58855276	1.00[EUR][1000 genomes]
rs58906199	1.00[EUR][1000 genomes]
rs59158661	1.00[EUR][1000 genomes]
rs59497317	1.00[EUR][1000 genomes]
rs59760564	1.00[EUR][1000 genomes]
rs60043047	1.00[EUR][1000 genomes]
rs60703382	1.00[EUR][1000 genomes]
rs61418384	1.00[EUR][1000 genomes]
rs72889514	1.00[EUR][1000 genomes]
rs72889520	1.00[EUR][1000 genomes]
rs72889535	1.00[EUR][1000 genomes]
rs72889541	1.00[EUR][1000 genomes]
rs72889543	1.00[EUR][1000 genomes]
rs72889545	1.00[EUR][1000 genomes]
rs72889546	1.00[EUR][1000 genomes]
rs72889550	1.00[EUR][1000 genomes]
rs72889551	1.00[EUR][1000 genomes]
rs72889556	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:8 , 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	nsv932915	chr2:50306630-50628415	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv2756107	chr2:50307245-50440043	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv948833	chr2:50307245-50459077	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1002344	chr2:50326207-50518933	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv535692	chr2:50326207-50518933	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50388400-50389400	Enhancers	HUES6 Cell Line	embryonic stem cell

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