Variant report

Variant	rs17708186
Chromosome Location	chr2:184113716-184113717
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1462531	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17707250	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17707395	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17707433	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17707584	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17757979	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17758140	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17759033	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17759145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62188074	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62188079	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62188084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62188085	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62188088	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62188095	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62188096	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62188098	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62188100	0.86[AMR][1000 genomes];0.93[EUR][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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv3067	chr2:184079419-184119957	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184109600-184114000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:184109600-184114000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:184109600-184114000	Weak transcription	HMEC	breast
4	chr2:184109600-184114200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:184112200-184114600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:184113600-184114200	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr2:184113600-184116200	Enhancers	NHEK	skin

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

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