Variant report

Variant	rs55997054
Chromosome Location	chr16:81871446-81871447
allele	A/C
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	NRF1	chr16:81871410-81871467	GM12878	blood:	n/a	n/a
2	IRF4	chr16:81871032-81871457	GM12878	blood:	n/a	n/a
3	POLR2A	chr16:81869852-81871572	GM18505	blood:	n/a	n/a
4	RUNX3	chr16:81870173-81871524	GM12878	blood:	n/a	n/a
5	TBP	chr16:81871188-81871456	GM12878	blood:	n/a	n/a
6	NFIC	chr16:81870158-81871512	GM12878	blood:	n/a	n/a
7	EP300	chr16:81871091-81871499	GM12878	blood:	n/a	chr16:81871293-81871307
8	TCF3	chr16:81870955-81871564	GM12878	blood:	n/a	n/a
9	MTA3	chr16:81870818-81871472	GM12878	blood:	n/a	n/a
10	ZNF384	chr16:81870965-81871598	GM12878	blood:	n/a	n/a
11	EBF1	chr16:81870830-81871465	GM12878	blood:	n/a	chr16:81871108-81871117 chr16:81871106-81871117 chr16:81871106-81871119
12	EP300	chr16:81870874-81871600	GM12878	blood:	n/a	chr16:81871293-81871307
13	SPI1	chr16:81871001-81871460	HL-60	blood:	n/a	n/a
14	BCLAF1	chr16:81870168-81871455	GM12878	blood:	n/a	chr16:81871015-81871022
15	STAT3	chr16:81871427-81871467	GM12878	blood:	n/a	n/a
16	NFIC	chr16:81870135-81871648	GM12878	blood:	n/a	n/a
17	NFATC1	chr16:81870150-81871511	GM12878	blood:	n/a	chr16:81870623-81870636
18	MTA3	chr16:81869325-81871513	GM12878	blood:	n/a	n/a
19	STAT5A	chr16:81870314-81871466	GM12878	blood:	n/a	chr16:81870548-81870559
20	SPI1	chr16:81870183-81871604	GM12878	blood:	n/a	chr16:81870553-81870566 chr16:81870991-81870998
21	EP300	chr16:81871040-81871559	GM12878	blood:	n/a	chr16:81871293-81871307

Variant related genes	Relation type
PLCG2	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55901360	0.83[EUR][1000 genomes]
rs56019161	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56204860	0.88[EUR][1000 genomes]
rs57963515	0.80[AMR][1000 genomes]
rs67174651	0.80[AMR][1000 genomes]
rs68118517	0.83[AMR][1000 genomes]
rs7194131	0.83[AMR][1000 genomes]
rs8059316	0.80[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	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	nsv1061544	chr16:81834313-81877375	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81858800-81878800	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81861600-81871800	Enhancers	Primary hematopoietic stem cells	blood
3	chr16:81865200-81874200	Weak transcription	Pancreas	Pancrea
4	chr16:81865400-81872800	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr16:81865800-81876600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81866800-81873800	Weak transcription	Lung	lung
7	chr16:81866800-81875600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr16:81866800-81898600	Weak transcription	Right Atrium	heart
9	chr16:81867600-81873000	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr16:81868000-81872800	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr16:81868200-81886000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr16:81868400-81875600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr16:81869400-81875400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:81869600-81871600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr16:81869800-81871600	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:81869800-81871800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr16:81869800-81872800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:81870000-81875600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr16:81870000-81875800	Enhancers	Primary B cells from peripheral blood	blood
20	chr16:81870400-81871600	Enhancers	Adipose Nuclei	Adipose
21	chr16:81870400-81871600	Flanking Active TSS	GM12878-XiMat	blood
22	chr16:81870600-81874200	Weak transcription	Esophagus	oesophagus
23	chr16:81871000-81872600	Enhancers	Primary B cells from cord blood	blood
24	chr16:81871200-81872200	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr16:81871200-81872600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr16:81871200-81875000	Weak transcription	Fetal Thymus	thymus
27	chr16:81871200-81897200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:81871400-81875800	Weak transcription	Spleen	Spleen

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