Variant report

Variant	rs2123284
Chromosome Location	chr16:80697149-80697150
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:80689193..80691677-chr16:80694873..80698122,4	MCF-7	breast:
2	chr16:80697075..80698922-chr16:80836578..80838205,2	MCF-7	breast:
3	chr16:80696124..80697869-chr16:80698359..80700017,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction
ENSG00000265341	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10871391	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11150298	0.81[MEX][hapmap]
rs11861803	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12444299	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12448651	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13331233	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1377119	0.89[CEU][hapmap];0.90[CHB][hapmap];0.86[JPT][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1452505	0.81[EUR][1000 genomes]
rs2316152	0.84[JPT][hapmap]
rs2873084	0.86[ASW][hapmap]
rs4061956	0.83[ASN][1000 genomes]
rs4613082	0.83[ASN][1000 genomes]
rs4888105	0.83[ASN][1000 genomes]
rs4889188	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4889189	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4889190	0.92[CEU][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.86[EUR][1000 genomes]
rs4889191	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4889192	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4889193	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62049933	0.82[AMR][1000 genomes]
rs6564778	0.90[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7189183	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs8048112	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8053722	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8055716	0.81[EUR][1000 genomes]
rs9888872	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9889160	0.84[JPT][hapmap];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9930141	0.89[CEU][hapmap];0.85[GIH][hapmap];0.82[MEX][hapmap];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9931314	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv1058764	chr16:80656966-80707848	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1057357	chr16:80662770-80794945	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3451298	chr16:80696935-80997389	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3350075	chr16:80696955-80997359	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2123284	ADAT1	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
2	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
4	chr16:80689800-80700200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr16:80690600-80728000	Weak transcription	Gastric	stomach
6	chr16:80690800-80703200	Weak transcription	Esophagus	oesophagus
7	chr16:80691000-80704400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr16:80694000-80698600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr16:80695600-80703200	Weak transcription	Lung	lung
10	chr16:80695800-80698200	Weak transcription	HUVEC	blood vessel
11	chr16:80695800-80700800	Weak transcription	Adipose Nuclei	Adipose
12	chr16:80696600-80705200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:80696800-80697400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr16:80697000-80699200	Weak transcription	Hela-S3	cervix

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