Variant report

Variant	rs9930054
Chromosome Location	chr16:81844615-81844616
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	chr16:81844065..81846034-chr16:81859888..81862460,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11150413	0.82[ASN][1000 genomes]
rs11150414	1.00[ASN][1000 genomes]
rs4243216	0.93[ASN][1000 genomes]
rs4559900	0.84[ASN][1000 genomes]
rs9806889	1.00[ASN][1000 genomes]
rs9806951	0.91[ASN][1000 genomes]
rs9806968	1.00[ASN][1000 genomes]
rs9807001	1.00[ASN][1000 genomes]
rs9937779	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv1067307	chr16:81832031-81851736	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	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
5	nsv523908	chr16:81840122-81844691	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9930054	PLCG2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81818000-81845000	Genic enhancers	Primary B cells from peripheral blood	blood
2	chr16:81819800-81848800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81832800-81848600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr16:81838600-81851400	Weak transcription	Right Atrium	heart
5	chr16:81840600-81848800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:81841400-81845200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr16:81841600-81845000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr16:81842000-81845400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr16:81843000-81845200	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
10	chr16:81843000-81847200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr16:81843200-81844800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:81843200-81847200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr16:81843200-81850400	Weak transcription	Fetal Thymus	thymus
14	chr16:81843200-81858200	Weak transcription	Fetal Intestine Small	intestine
15	chr16:81843400-81844800	Enhancers	Duodenum Mucosa	Duodenum
16	chr16:81843400-81848800	Weak transcription	Placenta	Placenta
17	chr16:81843400-81850600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr16:81843600-81847000	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr16:81843600-81850400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr16:81843800-81845200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr16:81844200-81845000	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr16:81844200-81847400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr16:81844400-81845200	Genic enhancers	Primary B cells from cord blood	blood
24	chr16:81844600-81844800	Enhancers	Liver	Liver
25	chr16:81844600-81844800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr16:81844600-81844800	Enhancers	Spleen	Spleen
27	chr16:81844600-81844800	Bivalent Enhancer	HepG2	liver
28	chr16:81844600-81845000	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr16:81844600-81845000	Enhancers	Esophagus	oesophagus
30	chr16:81844600-81845000	Enhancers	Pancreas	Pancrea
31	chr16:81844600-81845000	Enhancers	Rectal Mucosa Donor 31	rectum

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