Variant report

Variant	rs17505611
Chromosome Location	chr2:50375871-50375872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10490235	1.00[YRI][hapmap]
rs10490237	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10495982	1.00[CHD][hapmap];1.00[YRI][hapmap]
rs11887976	1.00[CHD][hapmap]
rs12464203	1.00[CHD][hapmap]
rs12467877	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12476510	0.81[AFR][1000 genomes]
rs17445771	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs17446158	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17447792	1.00[YRI][hapmap]
rs17447848	1.00[CHD][hapmap];1.00[YRI][hapmap]
rs17461653	1.00[YRI][hapmap]
rs17461897	1.00[YRI][hapmap]
rs17462099	1.00[CHD][hapmap];1.00[YRI][hapmap]
rs17463187	1.00[YRI][hapmap]
rs17496470	1.00[CHD][hapmap];1.00[MEX][hapmap]
rs17496539	1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs17505397	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17505495	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17507002	1.00[CHD][hapmap]
rs17507317	1.00[YRI][hapmap]
rs17508400	1.00[YRI][hapmap]
rs17508435	1.00[CHD][hapmap]
rs17508684	1.00[YRI][hapmap]
rs1915220	1.00[YRI][hapmap]
rs1915228	1.00[CHD][hapmap]
rs1915229	1.00[CHD][hapmap]
rs2078232	1.00[ASW][hapmap];1.00[YRI][hapmap];0.80[EUR][1000 genomes]
rs7598842	1.00[CHD][hapmap]

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:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50375000-50376200	Enhancers	Pancreatic Islets	Pancreatic Islet
2	chr2:50375600-50376000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:50375600-50376200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:50375600-50376400	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr2:50375800-50376400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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