Variant report

Variant	rs4889190
Chromosome Location	chr16:80688157-80688158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80686642..80688263-chr16:80836979..80838505,2	MCF-7	breast:
2	chr16:80687936..80690009-chr16:80691813..80693651,2	K562	blood:

Variant related genes	Relation type
ENSG00000166446	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11150298	0.81[GIH][hapmap];0.83[MEX][hapmap]
rs12444299	0.87[EUR][1000 genomes]
rs12716895	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs12920375	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12931703	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs13331233	0.82[EUR][1000 genomes]
rs1377119	0.89[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs1452505	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2123284	0.92[CEU][hapmap];0.81[GIH][hapmap];0.86[MEX][hapmap];0.86[EUR][1000 genomes]
rs2873085	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34889599	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4061956	0.84[EUR][1000 genomes]
rs4344764	0.81[ASN][1000 genomes]
rs4366717	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4462607	0.83[ASN][1000 genomes]
rs4536490	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4545833	0.82[EUR][1000 genomes]
rs4550468	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4889189	0.83[EUR][1000 genomes]
rs4889191	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4889192	0.81[EUR][1000 genomes]
rs7189183	0.92[CEU][hapmap];0.85[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8048112	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8053722	0.86[EUR][1000 genomes]
rs8055716	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9888872	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs9930141	1.00[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];0.90[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9931314	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4889190	ADAT1	cis	cerebellum	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80663200-80690200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr16:80667400-80690000	Weak transcription	Spleen	Spleen
3	chr16:80674400-80707600	Weak transcription	Placenta	Placenta
4	chr16:80684600-80690400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr16:80684800-80689600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:80684800-80689800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:80684800-80689800	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:80684800-80689800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr16:80684800-80689800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:80684800-80690000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr16:80684800-80690000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr16:80685200-80690000	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr16:80685800-80690200	Weak transcription	HUVEC	blood vessel
14	chr16:80685800-80691800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:80686800-80690800	Weak transcription	Fetal Kidney	kidney
16	chr16:80687000-80716200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr16:80687200-80692400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:80687400-80689600	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr16:80687600-80688200	ZNF genes & repeats	Aorta	Aorta
20	chr16:80687600-80688200	Enhancers	Lung	lung
21	chr16:80687800-80688400	Weak transcription	Fetal Intestine Small	intestine
22	chr16:80687800-80688600	Enhancers	Gastric	stomach
23	chr16:80687800-80689000	Enhancers	Pancreas	Pancrea
24	chr16:80687800-80690000	Strong transcription	Hela-S3	cervix
25	chr16:80688000-80688400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr16:80688000-80690200	Weak transcription	Duodenum Mucosa	Duodenum

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