Variant report

Variant	rs4547350
Chromosome Location	chr16:80617473-80617474
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:80616339..80621061-chr16:80643147..80647399,5	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1562989	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2316156	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2316157	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4516240	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7202869	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7405439	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8053414	0.81[AMR][1000 genomes]
rs9923300	0.84[JPT][hapmap]
rs9927579	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9936948	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	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
3	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4547350	PLCG2	cis	parietal	SCAN
rs4547350	TERF2IP	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:80612200-80618600	Weak transcription	Small Intestine	intestine
2	chr16:80615600-80619800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr16:80615800-80617600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr16:80615800-80619600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr16:80615800-80624800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr16:80616200-80619800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr16:80616600-80619800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr16:80617000-80618000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr16:80617000-80618000	Enhancers	NHDF-Ad	bronchial
10	chr16:80617000-80618200	Enhancers	HSMM	muscle
11	chr16:80617200-80617600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr16:80617200-80617600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr16:80617200-80617600	Enhancers	NHLF	lung
14	chr16:80617200-80617800	Enhancers	Fetal Muscle Leg	muscle
15	chr16:80617200-80617800	Enhancers	HSMMtube	muscle
16	chr16:80617200-80618000	Enhancers	NH-A	brain
17	chr16:80617200-80618200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr16:80617200-80618200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr16:80617200-80618400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:80617200-80620800	Enhancers	GM12878-XiMat	blood
21	chr16:80617400-80617600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:80617400-80617600	Enhancers	Hela-S3	cervix
23	chr16:80617400-80618000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:80617400-80618000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:80617400-80618000	Enhancers	NHEK	skin
26	chr16:80617400-80618000	Enhancers	Osteobl	bone

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