Variant report

Variant	rs994545
Chromosome Location	chr2:184140295-184140296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10460379	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10931073	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1115266	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11684526	0.92[ASN][1000 genomes]
rs11902312	0.86[ASN][1000 genomes]
rs12465597	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12465639	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478212	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12478304	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16824225	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2045761	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2887243	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4274569	0.94[ASN][1000 genomes]
rs55672123	0.88[ASN][1000 genomes]
rs55709437	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55784122	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55825381	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56073849	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56118537	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58996203	0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6755872	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs997930	0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv583951	chr2:184121475-184142975	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
6	nsv1014807	chr2:184123737-184181052	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184131800-184147600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:184140200-184140600	Enhancers	HUES48 Cell Line	embryonic stem cell

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