Variant report

Variant	rs2012766
Chromosome Location	chr16:80737642-80737643
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80736212..80738692-chr16:80749394..80751411,2	MCF-7	breast:
2	chr16:80724294..80726399-chr16:80735522..80737702,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10871395	0.84[MEX][hapmap]
rs11150307	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11859496	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs12447921	0.81[CEU][hapmap]
rs17752269	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs2316152	0.80[CEU][hapmap]
rs28842293	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4061957	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55951904	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6564779	0.96[CEU][hapmap]
rs6564783	0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6564784	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67472551	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7187646	0.84[ASW][hapmap];0.84[CEU][hapmap];0.96[YRI][hapmap]
rs7190973	0.81[CEU][hapmap]
rs7195952	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs7196811	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7197106	0.81[CEU][hapmap]
rs7201300	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7202345	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7202548	0.81[CEU][hapmap];0.92[MEX][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8044056	0.83[LWK][hapmap]
rs8047993	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8048068	0.88[CEU][hapmap]
rs8049284	0.81[EUR][1000 genomes]
rs8052730	0.80[EUR][1000 genomes]
rs896629	0.81[CEU][hapmap];0.83[YRI][hapmap]
rs896630	0.80[MEX][hapmap]
rs930743	0.81[CEU][hapmap]
rs930744	0.84[ASW][hapmap];0.96[CEU][hapmap];0.82[CHD][hapmap];0.94[TSI][hapmap];0.80[EUR][1000 genomes]
rs9923180	0.81[CEU][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9927568	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9928957	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9936059	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9940498	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][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	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	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
4	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
5	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
6	esv33408	chr16:80706129-80745371	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv542990	chr16:80729797-80918198	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv833301	chr16:80732170-80928751	Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2012766	ADAT1	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80689000-80751000	Weak transcription	Pancreas	Pancrea
2	chr16:80719000-80746800	Weak transcription	Spleen	Spleen
3	chr16:80733000-80742600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr16:80735800-80739400	Enhancers	Fetal Intestine Small	intestine
5	chr16:80736400-80738600	Enhancers	Fetal Intestine Large	intestine
6	chr16:80736600-80738400	Enhancers	Gastric	stomach
7	chr16:80737200-80738200	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr16:80737200-80742000	Strong transcription	Hela-S3	cervix
9	chr16:80737400-80737800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr16:80737400-80738200	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr16:80737400-80738400	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr16:80737400-80738800	Enhancers	Small Intestine	intestine
13	chr16:80737600-80738000	Enhancers	Duodenum Mucosa	Duodenum

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