Variant report

Variant	rs56350744
Chromosome Location	chr16:81814408-81814409
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:81812636-81814702	GM12878	blood:	n/a	n/a
2	NFYB	chr16:81814125-81814429	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81813371-81814410	GM12878	blood:	n/a	n/a
4	POLR2A	chr16:81812600-81814538	GM12892	blood:	n/a	n/a
5	POLR2A	chr16:81812505-81814483	GM12892	blood:	n/a	n/a
6	POLR2A	chr16:81812574-81814447	Raji	blood:	n/a	n/a

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12925961	0.87[EUR][1000 genomes]
rs12926919	0.87[EUR][1000 genomes]
rs4273032	0.84[AMR][1000 genomes]
rs4888175	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4889381	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55768769	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60780862	0.80[AMR][1000 genomes]
rs72834726	0.80[ASN][1000 genomes]
rs72834729	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][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	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
2	nsv573365	chr16:81804972-81975892	Strong transcription Bivalent/Poised TSS Weak transcription ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv3372455	chr16:81810851-81815149	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81812400-81815000	Active TSS	GM12878-XiMat	blood
2	chr16:81813800-81814600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr16:81813800-81816400	Weak transcription	Lung	lung
4	chr16:81813800-81817200	Weak transcription	Left Ventricle	heart
5	chr16:81813800-81817800	Weak transcription	Right Atrium	heart
6	chr16:81814000-81816400	Weak transcription	Small Intestine	intestine
7	chr16:81814000-81817200	Weak transcription	Liver	Liver
8	chr16:81814000-81817600	Weak transcription	Gastric	stomach
9	chr16:81814200-81814600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
10	chr16:81814200-81815600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr16:81814200-81816200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr16:81814200-81816400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:81814200-81816400	Weak transcription	Pancreas	Pancrea
14	chr16:81814200-81816400	Weak transcription	Spleen	Spleen
15	chr16:81814200-81818200	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:81814200-81818200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:81814200-81818400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr16:81814400-81814600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr16:81814400-81814800	Active TSS	Primary hematopoietic stem cells	blood
20	chr16:81814400-81815000	Enhancers	Primary B cells from cord blood	blood
21	chr16:81814400-81816400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr16:81814400-81816800	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr16:81814400-81817200	Genic enhancers	Primary B cells from peripheral blood	blood
24	chr16:81814400-81831800	Weak transcription	Adipose Nuclei	Adipose

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