Variant report

Variant	rs12932436
Chromosome Location	chr16:81857533-81857534
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	chr16:81846967..81849391-chr16:81855617..81857822,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4243216	0.88[EUR][1000 genomes]
rs4322655	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4405545	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4429292	0.84[EUR][1000 genomes]
rs4559900	0.93[EUR][1000 genomes]
rs5021608	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7200218	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8047417	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9926920	0.81[EUR][1000 genomes];0.90[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12932436	PLCG2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81843200-81858200	Weak transcription	Fetal Intestine Small	intestine
2	chr16:81849000-81858800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr16:81850800-81868200	Weak transcription	Esophagus	oesophagus
4	chr16:81852800-81858200	Weak transcription	Lung	lung
5	chr16:81854400-81857600	Enhancers	Duodenum Mucosa	Duodenum
6	chr16:81854600-81857600	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr16:81855200-81858400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr16:81855400-81858200	Weak transcription	Thymus	Thymus
9	chr16:81855600-81865000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr16:81856000-81864800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr16:81856600-81857600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
12	chr16:81856600-81858800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
13	chr16:81856800-81858400	Enhancers	Primary hematopoietic stem cells	blood
14	chr16:81856800-81862400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr16:81857000-81857600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr16:81857000-81858200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr16:81857000-81858400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr16:81857200-81857800	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr16:81857200-81858000	Enhancers	Primary B cells from peripheral blood	blood
20	chr16:81857200-81858000	Weak transcription	Placenta	Placenta
21	chr16:81857200-81858000	Weak transcription	Spleen	Spleen
22	chr16:81857200-81860600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr16:81857200-81864600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr16:81857200-81865200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr16:81857200-81866400	Weak transcription	Right Atrium	heart
26	chr16:81857200-81867400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:81857400-81858000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr16:81857400-81864400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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